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For up-to-date journal articles on CMT go to Yahoo Group CMTUS, CMTAUSA.org or HNF-cure.org, Medline or any number of the medical journal sites out there now. Most abstracts listed are free but some charge for the full articles. The journal articles below still contain good information but were all published before 2002.

(Journal Articles are listed under Topic, then Author(s), Title, Journal, Date, and Page Numbers)

ANESTHETICS:
Antognini JF. Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. Canadian Journal of Anaesthesia 1992/39:4 pp.398-400

Brian JE, Boyes GD, et al. Anesthetic Management for Cesarean Section of a Patient with Charcot-Marie-Tooth Disease. Anesthesiology 1987/66:410-412

Cooperman LH. Succinylcholine-Induced Hyperkalemia in Neuromuscular Disease. JAMA 1970/Vol.213 No.11:1867-1871

Greenberg RS, Parker SD. Anesthetic Management for the Child with Charcot-Marie-Tooth Disease. Anesth Analg 1992/74:305-7

Huang J.; Soliman I. Anaesthetic management for a patient with Dejerine-Sottas disease and asthma. Paediatric Anaesthesia 2001 11/2 (225-227)

Kirmayer UJ, Preisz A; Anaesthesiological management of osteosynthesis of the ankle joint in a pregnant woman (35th pregnancy week) suffering from Charcot-Marie-Tooth's syndrome. Anasthesiologie Intensivmedizin Notfallmedizin Schmerztherapie 1996/31/9:582-589
(Abstract only - German)

Kotani N, Hirota K, et al. Motor and Sensory Disability has a Strong Relationship to Induction Dose of Thiopental in Patients with the Hypertrophic Variety of Charcot-Marie-Tooth Syndrome. Anesth Analg 1996/82:182-6

Mills P. Charcot-Marie-Tooth disease -- suxamethonium and malignant hyperthermia triggering agents [letter; comment]. Anaesthesia 1998 Nov; 53 (11): 1134

Naguib M, Samarkandi AH. Response to atracurium and mivacurium in a patient with Charcot-Marie-Tooth disease. Can J Anaesth 1998/45:1/pp56-9

Reah G, Lyons GR, Wilson RC. Anesthesia for Caesarean section in a patient with Charcot-Marie-Tooth disease. Anaesthesia 1998/53:586-588

Roelofse, Shipton. Anesthesia for abdominal hysterectomy in Charcot-Marie-Tooth disease, A case report. SAMJ 1985/Vol.67:605-606

AUTONOMIC NERVOUS SYSTEM:
Bird TD, Reenan AM, et al. Autonomic Nervous System Function in Genetic Neuromuscular Disorders: Hereditary Motor-Sensory Neuropathy and Myotonic Dystrophy. Archives of Neurology 1984/Vol.41:43-46

BREATHING:
Carter GT. Phrenic Nerve Involvement in Charcot-Marie-Tooth. Muscle & Nerve; Letters to the Editor 1995/p.1215

Carter GT, Kilmer DD, et al. Evaluation of Phrenic Nerve and Pulmonary Function in Hereditary Motor and Sensory Neuropathy Type I. Muscle & Nerve 1992/15:459-462

Chan CK, Loke J, et al. Bilateral Diaphragmatic Paralysis: Clinical Spectrum, Prognosis, and Diagnostic Approach, Archives of Physical Medical Rehabilitation 1988/69:976-979

Chan CK, Mohsenin V et al. Diaphragmatic Dysfunction in Siblings with Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease). Chest 1987/91/4:567-570

Chan CK, Mohsenin V, et al. Respiratory Muscles and Respiratory Control; Diaphragmatic Dysfunction in Association with Charcot-Marie-Tooth Disease and Diabetes Mellitus. Abstracts, 52nd Annual Scientific Assembly 458S

Chan CK, Nathanson BN. Respiratory Muscle Dysfunction in Hereditary Motor and Sensory Neuropathy. Archives of Internal Medicine 1989/Vol.149:972-973

Dematteis M; Pepin J-L; Jeanmart M; et al. Charcot-Marie-Tooth Disease and Sleep Apnoea Syndrome: A Family Study. Lancet 2001;357:267-72

Dyck, PJ, Litchy WJ, et al. Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis. Annals of Neurology 1994/Vol.35 No.5:608-615
Dyer E, Callahan AS. Charcot-Marie-Tooth Disease and Respiratory Failure. Chest 1988/ 92/1:221

Eichacker PQ, Spiro A, et al. Respiratory Muscle Dysfunction in Hereditary Motor Sensory Neuropathy, Type 1. Archives of Internal Medicine 1988/Vol.148:1739-1740

Gilchrist D, Chan CK, Deck JHN. Phrenic Involvement in Charcot-Marie-Tooth Disease - A Pathologic Documentation. Chest 1989/96:1197-99

Hirsch NP. Respiratory insufficiency in Charcot-Marie-Tooth disease. Anaesthesia 1998/ 53:1034

Laroche CM, Carroll N, et al. Diaphragm weakness in Charcot-Marie-Tooth disease. Thorax 1988/43:478-479

Misuri G, Lanini B, et al. Mechanism of CO2 Retention in Patients with Neuromuscular Disease. Chest 2000; 117:447-453

Nathanson BN, Yu DG, Chan CK. Respiratory Muscle Weakness in Charcot-Marie-Tooth Disease, A Field Study. Archives of Internal Medicine 1989/149:1389-91

CENTRAL NERVOUS SYSTEM INVOLVEMENT:
Bahr M; Andres F; et al. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. J Neurol Neurosurg Psychiatry 1999 Feb; 66 (2): 202-6

Marques W. Jr.; Sweeney M.G.; et al. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins (3). Journal of Neurology Neurosurgery and Psychiatry 1999 66/6 (803-804)

Panas M; Karadimas C; et al. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations [letter; comment]. J Neurol Neurosurg Psychiatry 1998 Dec; 65 (6): 947-8

COLD STRESS:
Williams LL, Vieth RF, et al. Abnormal Responses to Cold Stress in Charcot-Marie-Tooth I Syndrome. Archives of Physical Medicine and Rehabilitation 1994/Vol.75:pp.787-791

DIAGNOSIS:
- Added Diagnosis:
Dubourg O.; Tardieu S.; Birouk N.; Gouider R.; et al. The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity. Neuromuscular Disord. 2001 11/5 (458-463)

Mohan U; Misra VP; Britto J; et al. Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. Nueromuscul Disord 2001 May; 11 (4): 395-9

Malandrini A; Villanova M; et al. Acute inflammatory neuropathy in Charcot-Marie-Tooth disease. Neurology 1999 Mar 10; 52 (4): 859-61

Misu K; Yoshihara T; Yamamoto M; et al. [Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropathy and the Thr124Met mutation in the peripheral myelin protein zero gene]. Rinsho Shinkeigaku 2000 Feb; 40 (2): 149-54
(Abstract only - Japanese)

Pareyson D; Charcot-Marie-Tooth Disease and Related Neuropathies: Molecular Basis for Distinction and Diagnosis. Muscle & Nerve 1999/22:1498-1509

- Childhood:
Feasby TE, Hahn AF, et al. Detection of hereditary motor sensory neuropathy type I in childhood. Journal Neurology Neurosurgery 1992/55:895-897

Gabreels-Festen AAWM, Joosten EMG, et al. Hereditary Motor and Sensory Neuropathy of Neuronal Type with Onset in Early Childhood. Brain 1991/114:1855-1870

Nakai Y.; Okumura A.; Takada H.; Negoro T.; et al. Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease. Brain and Development 2001 23/4 (258-260)

Ouvrier RA, McLeod JG. Chronic peripheral neuropathy in childhood: An overview. Aust.Paediatr.J. 1988/Suppl.:80-82

Ouvrier RA, McLeod JG, et al. Hereditary Motor and Sensory Neuropathy of Neuronal Type with Onset in Early Childhood. Journal of Neurological Sciences 1981/51:181-197

Ouvrier RA, McLeod JG, et al. The Hypertrophic Forms of Hereditary Motor and Sensory Neuropathy - A Study of Hypertrophic Charcot-Marie-Tooth Disease (HMSN Type I) and Dejerine Sottas Disease (HMSN Type III) in Childhood. Brain 1987/110:121-148

Tyson J; Ellis D; et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 1997 120:47-63

- Prenatal Diagnosis:
DeVos A, Sermon K, et al. Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A. Molecular Human Reproduction 1998/Vol.4 No.10:978-984

Lebo RV. Prenatal diagnosis of Charcot-Marie-Tooth Disease. Prenat. Diagn.1998/18:169-172


DRUGS, VITAMINS and DIETARY SUPPLEMENTS:
Albin RL, Albers JW, et al. Acute sensory neuropathy-neuronopathy from pyridoxine overdose. Neurology 1987/37:1729-1732

Berger AR, Schaumburg HH, et al. Dose response, coasting, and differential fiber vulnerability in human toxic neuropathy: A prospective study of pyridoxine neurotoxicity. Neurology 1992/42:1367-1370

Cowie F.; Barrett A. Uneventful administration of cisplatin to a man with X-linked Charcot-Marie-Tooth disease (CMT) (2) Annals of Oncology 2001 12/3 (422)

Folkers K, Simonsen R. Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies. Biochimica et Biophysica Acta 1271 (1995) 281-286

Folkers K, Wolaniuk J, et al. Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10. Proc.Natl.Acad.Sci.USA 1985/Vol.82:4513-16

Gould H. Gabapentin induced polyneuropathy. Pain 74 (1998) 341-343
Graf WD, Chance PF, et al. Severe Vincristine Neuropathy in Charcot-Marie-Tooth Disease Type 1A. Cancer 1996/Vol.77 No.7:pp.1356-1363

Hogan-Dann CM, Fellmeth WG, et al. Polyneuropathy Following Vincristine Therapy in Two Patients with Charcot-Marie-Tooth Syndrome. JAMA 1984/252:2862-2863

Langsjoen PH. Introduction to Coenzyme Q10. (References) 1994 - 9 pages

Mercuri E; Poulton J; et al. Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A. Arch Dis Child 1999; 81:442-443

Morello Candis M; Leckband Susan G; Stoner Carol P; et al. Randomized Double-blind Study Comparing the Efficacy of Gabapentin With Amitriptyline on Diabetic Peripheral Neuropathy Pain. Arch Intern Med. 1999;159:1931-1937

Neumann Y, Toren A, et al. Vincristine Treatment Triggering the Expression of Asymptomatic Charcot-Marie-Tooth Disease. Medical and Pediatric Oncology 1996/16:280-281

Olek MJ; Bordeaux B; Leshner RT Charcot-Marie-Tooth disease type I diagnosed in a 5-year-old boy after vincristine neurotoxicity, resulting in maternal diagnosis. J Am Osteopath Assoc 1999 Mar; 99 (3): 165-7

Parry GJ, Bredesen DE. Sensory neuropathy with low-dose pyridoxine. Neurology 1985/ 35: 1466-1468

Russell JW; Windebank AJ; Harper CM. Treatment of Stable Chronic Demyelinating Polyneuropathy With 3,4-Diaminopyridine. Mayo Clinic Proc 1995; 70:532-539
Tarnopolsky M, Martin J. Creatine monohydrate increases strength in patients with neuromuscular disease. Neurology 1999/52:854-857

Vanhooren G, Dehaene I, Van Zandycke M, et al. Polyneuropathy in Lithium Intoxication. Muscle & Nerve March 1990 13:204-208

EXERCISE:
Florence JM, Hagberg JM. Effect of training on the exercise responses of neuromuscular disease patients. Medicine and Science in Sports and Exercise Vol.16 No.5 1984;pp.460-465

Kilmer DD. The Role of Exercise in Neuromuscular Disease. Rehabilitation of Neuromuscular Disease. Vol.9 No.1 Feb.98;115-125

Lindeman E; Spaans F; et al. Progressive resistance training in neuromuscular patients. Effects on force and surface EMG. Journal of Electromyography and Kinesiology 9 (1999) 379-384

EYES:
Chalmers RM, Bird AC, Harding AE. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. Journal of Neurology, Neurosurgery, and Psychiatry 1996;60:195-196

Chalmers RM, Riordan-Eva P, Wood NW. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy. Journal of Neurology, Neurosurgery, and Psychiatry 1997;62:385-387

Dillmann U, Heide G, et al. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. J Neurol 1997/244:562-565

Kiwaki T, Umehara F, et al. Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma. Neurology 2000/55:392-397

Sommer C, Schroder JM. Hereditary Motor and Sensory Neuropathy with Optic Atrophy. Arch Neurol 1987/Vol.46:973-977

- CMT and Myasthenia Gravis:
Chen CM, Chang HS, et al. Myasthenia Gravis and Charcot-Marie-Tooth Disease Type 1A: An Unusual Combination of Disease. Muscle & Nerve 1997/20:1457-1459

Spector RH, Smith JL, et al. Charcot-Marie-Tooth Disease Mimicking Ocular Myasthenia Gravis. Annals of Ophthalmology 1978/1032-1036

FACE and JAW:
Glocker F; Rosler KM; et al. Facial Nerve Dysfunction in Hereditary Motor and Sensory Neuropathy Type I and III. Muscle Nerve 1999 22:1201-1208

Hiroaki, I, Tsuji T, et al. Significance of Facial and Trigeminal Nerve Involvement in Charcot-Marie-Tooth Disease Type 1A: A Case Report. Muscle & Nerve Letters to the Editor Aug.1998/1108-10

FEET, LEGS and ANKLES:
Ericson U; Borg J; Borg K. Macro-EMG and Muscle Biopsy of Paretic Foot Dorsiflexors in Charcot-Marie-Tooth Disease. Muscle & Nerve 2000; 23:217-222

Holmes JR, Hansen ST. Foot and Ankle Manifestations 0f Charcot-Marie-Tooth Disease. Foot and Ankle 1993/Vol.14 No.8:476-486

Ibrahim K. Pes Cavus. Surgery of the Musculoskeletal System Second Edition 1990/4015-4034

Krampitz DE, Wolfe GI, et al. Charcot-Marie-Tooth disease type 1A presenting as calf hypertrophy and muscle cramps. Neurology 51 1998/1508-9

Laughlin RT, Wenzke DJ. Foot and ankle orthotics. Current Opinion on Orthopedics 1998 9;III:30-36

Mann DC, Hsu JD. Triple Arthrodesis in the Treatment of Fixed Cavovarus Deformity in Adolescent Patients with Charcot-Marie-Tooth Disease. Foot & Ankle No.1/Jan.1992 Vol.13

Mann RA, Missiran J. Pathophysiology of Charcot-Marie-Tooth Disease. Clinical Orthopaedics and Related Research 1988/Number 234:0227-0234

Mondelli M; Giannini F; Reale F. Clinical and electrophysiological findings and follow-up in tarsal tunnel syndrome. Electroencephalogr Clin Neurophysiol 1998 Oct; 109 (5): 418-25

Ramcharitar SI, Koslow P, Simpson DM.. Lower Extremity Manifestations of Neuromuscular Diseases. Clinics in Podiatric Medicine and Surgery 1998/Vol.15 No.4:705-737

Stogbauer F; Young P; et al. Autosomal dominant burning feet syndrome. J Neurol Neurosurg Psychiatry 1999 67:78-81

- Restless Leg Syndrome:
Gemignani F; Marbini A; et al. Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology 1999 Mar 23; 52 (5): 1064-6

Iannaconne S; Quattrini A; et al. Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Neurology 2000; 54:1013-1014

GASTROINTESTINAL
Soykan I, McCallum RW. Gastrointestinal Involvement in Neurologic Disorders: Stiff-Man and Charcot-Marie-Tooth Syndromes. The American Journal of the Medical Sciences. January 1997/Vol.313, No. 1:70-72

GENERAL:
Benstead TJ; Grant IA. Progress in Clinical Neurosciences: Charcot-Marie-Tooth Disease and Related Inherited Peripheral Neuropathies. Can. J. Neurol. Sci. 2001; 28: 199-214

Ericson U.; Borg K. Analysis of sensory function in Charcot-Marie-Tooth disease. Acta Neurologica Scandinavica 1999 99:291-296

Heinemeyer O.; Reimers C.D. Ultrasound of radial, ulnar, median, and sciatic nerves in healthy subjects and patients with hereditary motor and sensory neuropathies. Ultrasound in Med. & Biol. 1999 25/3:481-485

Ionasescu VV. Charcot-Marie-Tooth Neuropathies: From Clinical Description to Molecular Genetics. Muscle & Nerve 18:267-275

Isaacs H, Badenhorst ME. Distal dystrophy-unusual presentations. SAMJ 1989/76 No.8:443-446

Jay V. The Legacy of Jean-Martin Charcot. Arch Pathol Lab Med 2000; 124:10-11

Lovelace RE, Shapiro HK. Charcot-Marie-Tooth Disorders, Pathophysiology, Molecular Genetics and Therapy. Neurology and Neurobiology Vol.53

Mendell, JR. Charcot-Marie-Tooth Neuropathies and Related Disorders. Seminars In Neurology 1998/Vol.18 No.1:41-47

Phillips M.F.; Steer H.M.; et al. Daytime somnolence in myotonic dystrophy. Journal of Neurology 1999 246:275-282

Warner LE; Garcia CA; Lupski JR Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. 65 REFS Annu Rev Med 1999; 50: 263-75

GENERAL NEUROPATHIES
Periquet MI; Novak V; et al. Painful sensory neuropathy - Prospective evaluation using skin biopsy. Neurology 1999; 53:1641-1647

GENETIC RESEARCH: Search Ionasescu, VV

GENETICS:
Chance PF. Molecular genetics of hereditary neuropathies.108 REFS J Child Neurol 1999 Jan; 14 (1): 43-52

Valentijn LJ; Baas F. Genetic basis of peripheral neuropathies. Progress in Brain Research 1998; 117:249-64

White T.W.; Paul D.L. Genetic diseases and gene knockouts reveal diverse connexin functions. Annual Review of Physiology 1999 61:283-310

HEARING:
Alcin B; Vatovec J; Zargi M. Pure tone audiogram and speech audiometry in patients with hereditary motor and sensory neuropathy. Eur J Physiol (2000) 439 (Suppl): R202-R203

Butinar D; Starr A; Vatovec J. Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. Eur J Physiol (2000) 439 (Suppl): R204-R205

Cornell J, Sellars JS, Beighton P. Autosomal recessive inheritance of Charcot-Marie-Tooth disease associated with sensorineural deafness. Clinical Genetics 1984/14:163-165

Kousseff BG, Hadro TA, et al. Charcot-Marie-Tooth Disease with Sensorinerual Hearing Loss–An Autosomal Dominant Trait. Birth Defects: Original Article Series 1982 /Vol.18 No.3B:223-228

Leonardis L; Zidar J; Popovic M; et al. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family. Pflügers Arch - Eur J Physiol (2000) 439 [Suppl]: R208-R210

Musiek F, Weider D, et al. Audiologic Finding in Charcot-Marie-Tooth Disease. Arch Otolaryngol 1982/Vol.108

Perez H, Vilchez J, et al. Audiologic Evaluation in Charcot-Marie-Tooth disease. Scan Audiol Suppl. 1988/30:211-213

Pinczower EF. Phonatory Diagnosis and Phonosurgery. Epitomes Otolaryngology/Head and Neck Surgery

Raglan E, Prasher DK, et al. Auditory function in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Acta Otoaryngol (Stockh) 1987/11013:50-55

Rungby J.A.; Johnsen T.; Jensen J.H.; Tos M.; et al. Prevalence of hearing impairment in hereditary motor and sensory neuropathy (HMSN) - HMSN type 1A versus other subtypes. Journal of Audiological Medicine 2001 10/1 (33-48)

Stojkovic T; Latour P; et al. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology 1999 Mar 23; 52 (5): 1010-4

Stone J, Moran G, Walls TJ. Hereditary motor and sensory neuropathy type 1A associated with sensorineural deafness. Journal of Neurology Neurosurgery and Psychiatry 1998 65/3(403)

HEART:
Himmrich E; Popov S; Liebrich A; et al. [Hidden intracardiac conduction disturbances and their spontaneous course in patients with progressive muscular dystrophy]. Z Kardiol 2000 Jul; 89 (7): 592-8
(Abstract only - German)

Isner JM, Hawley RJ, et al. Cardiac Findings in Charcot-Marie-Tooth Disease - A Prospective Study of 68 Patients. Archives of Internal Medicine Vol.139 Oct.1979:1161-1165

Lewis WR, Yadlapalli S. Management of Cardiac Complications in Neuromuscular Disease. Rehabilitation of Neuromuscular Disease 1998/Vol.9 No.1:145-166

Lowry PJ, Littler WA. Peroneal muscular atrophy associated with cardiac conducting tissue disease: further observations. Postgraduate Medical Journal Aug.1983 59;530-532

Zupan A. Cardiovascular Aberrations in patients with neuromuscular diseases. Acta Cardiomiologica 1995 7/2:107-111

HEREDITARY NEUROPATHY with LIABILITY to PRESSURE PALSIES:
Andersson PB; Uyen E; et al. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000; 54:40-44

Andreadou E; Yapijakis C; et al. Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. Journal of Neurology 1996 V.243 No.3:225-230

Asahina M; Kuwabara S; et al. Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy. J.Neurol Neurosurg Psychiatry 2000; 68:110-111

Chance PF, Alderson MK, et al. DNA Deletion Association with Hereditary Neuropathy with Liability to Pressure Palsies. Cell 1993/Vol.72:143-151

Chance PF; Lensch MW; Lipe H; Brown RH Sr.; Brown RH Jr; Bird TD. Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: Two distinct genetic disorders. Neurology 1994 44/12: 2253-2257

Crum B, Sorenson E, Abad G, and Dyck PJ. Fulminant Case of Hereditary Neuropathy with Liability to Pressure Palsy. Muscle & Nerve 2000/23:979-983

de las Cuevas I; Arteaga R; et al. [Hereditary neuropathy with liability to pressure palsies in childhood]. Rev Neurol 2000 Jul 1-15; 31 (1): 38-41
(Abstract only - Spanish)

Drouet A; Guilloton L; Latour P; Ribot C. [Recurrent facial nerve paralysis in hereditary neuropathy with liability to pressure palsy (letter)]. Presse Med 2000 Apr 1; 29 (12): 655
(Abstract only - French)

Dubourg O; Mouton P; Brice A; LeGuern E; Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscular Disorders 10(2000):206-208

Lane JE; Foulkes GD; Hope TD; Mayorov VI; Adkison L. Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy. [In Process] J Hand Surg [Am] 2001 Jul; 26 (4): 670-4

Lepski G.R.; Alderson J.D. Epidural analgesia in labour for a patient with hereditary neuropathy with liability to pressure palsy. International Journal of Obstetric Anesthesia 2001 10/3 (198-201)

Lesca G; Meunier S; Zine A; et al. [Hereditary neuropathy with tendency to pressure palsies (HNPP) in a child: clinical and biological diagnosis. A case report]. Arch Pediatr 2000 Mar; 7 (3): 271-3
(Abstract only - French)

Lorenzetti D, Pareyson D, et al. A 1.5-Mb Deletion in 17p11.2-p12 is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies. American Journal of Human Genetics 1995/56:91-98

Mouton P; Tardieu S; et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999 Apr 22; 52 (7): 1440-6

Orstavik K; Skard Heier M; Young P; Stogbauer F. Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. [In Process] Muscle & Nerve 2001 Aug; 24 (8): 1093-6

Stogbauer F; Young P; et al. Hereditary recurrent focal neuropathies-Clinical and molecular features. Neurology 2000; 54:546-551

HIPS:
Fuller JE, DeLuca PA. Acetabular Dysplasia and Charcot-Marie-Tooth Disease in a Family. The Journal of Bone and Joint Surgery Vol.77-A No.7:1087-1091

Kumar SJ, Marks HG, et al. Hip Dysplasia Associated with Charcot-Marie-Tooth Disease in the Older Child and Adolescent. Journal of Pediatric Orthopedics 1985/Vol.5:511-514

van Erve, R.H.G.P. Driessen, A.P.P.M. Developmental Hip Dysplasia in Hereditary Motor and Sensory Neuropathy Type 1. Journal of Pediatric Orthopaedics 1999 Vol.19 No.1:92-96

Walker JL, Nelson KR, et al. Hip Abnormalities in Children with Charcot-Marie-Tooth Disease. Journal of Pediatric Orthopaedics 1994/14:45-59

KIDNEY:
Nadal MA; Lago NR; et al. Fibrillary glomerulonephritis and Charcot-Marie-Tooth disease. Am J Kidney Dis 1998 Nov; 32 (5): E3

MOBILITY
Nitz JC, Burns YR, Jackson RV. Sit-to-stand and Walking Ability in Patients with Neuromuscular Conditions. Physiotherapy 1997, Vol.83 No.5:223-227

PAIN:
Carter GT, Jensen MP, et al. Neuropathic Pain in Charcot-Marie-Tooth Disease. Arch Phys Med Rehabil 1998/Vol.79:1560-1564

POPULATION SURVEYS:
Isaacs H, Badenhorst ME. A survey of Charcot-Marie-Tooth disease in the white population of South Africa. SA Journal of Science 1989/85:343

PREGNANCY:
Kirmayer UJ, Preisz A; Anaesthesiological management of osteosynthesis of the ankle joint in a pregnant woman (35th pregnancy week) suffering from Charcot-Marie-Tooth's syndrome. Anasthesiologie Intensivmedizin Notfallmedizin Schmerztherapie 1996/31/9:582-589
(Abstract only - German)

Pollock M, Nukada H, et al. Exacerbation of Charcot-Marie-Tooth disease in pregnancy. Neurology (Ny) 1982/32:1311-1314

Rudnik-Schoneborn S, Rohrig D, et al. Pregnancy and Delivery in Charcot-Marie-Tooth Disease type 1. Neurology 1993/43:2011-2016

REHABILITATION:
Bean J; Walsh A; Frontera W. Brace modification improves aerobic performance in Charcot-Marie-Tooth disease: a single-subject design. Am J Phys Med Rehabil 2001 Aug; 80 (8): 578-82

Carter GT. Rehabilitation Management in Neuromuscular Disease. J Neuro Rehab 1997; 11:69-80

Mulder T; den Otter R; van Engelen B. The regulation of fine movements in patients with Charcot Marie Tooth, type Ia: some ideas about continuous adaptation. Motor Control 2001 Apr; 5 (2): 200-14

Njegovan ME, Leonard EI, Joseph FB. Rehabilitation Medicine Approach to Charcot-Marie-Tooth Disease. Pediatric Podiatry. 1997/Vol.14:99-116

Vinci P. Strengthening of the proximal muscles in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 2001 Apr; 82 (4): 563


SEXUALITY :
- IMPOTENCE
Bird TD, Lipe HP, Crabtree LD. Impotence Associated with the Charcot-Marie-Tooth Syndrome. European Neurology 1994/34:155-157

Vodusek DB, Zidar J. Pudendal nerve involvement in patients with hereditary motor and sensory neuropathy. Act Neurol Scand. 1987/76:457-460

- SEX
Crabtree L. Charcot-Marie-Tooth Disease: Sex, Sexuality and Self-Esteem Sexuality and Disability 1997/Vol.15 No.4

SPASTIC PARAPLEGIA:
Dillmann U, Heide G, et al. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family. J Neurol 1997/244:562-565

SPINE:
Butefisch C, Gutmann L, et al. Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. Neurology 52 99:890-891

Hahn M, Hirschfeld A, Sander H. Hypertrophied Cauda Equina Presenting as Intradural Mass: Case Report and Review of Literature. Surg Neurol 1998/49:514-9

Midroni G; Noel de Tilly L; et al. MRI of the cauda equina in CIDP: clinical correlations. Journal of the Neurological Sciences 170 (1999) 36-44

Walker JL, Nelson KR, et al. Spinal Deformity in Charcot-Marie-Tooth Disease. SPINE 1994/Vol.19 No.9:1044-1047

SURGERY:
- HANDS
Brown RE, Zamboni WA, et al. Evaluation and management of upper extremity neuropathies in Charcot-Marie-Tooth disease. The Journal of Hand Surgery, St. Louis 1992/ Vol.17 No.3:523-530

Chalekson CP, Brown RE, et al. Nerve Decompression at the Wrist in Patients with Charcot-Marie-Tooth Disease. Plastic and Reconstructive Surgery Sept.1999/Vol.104, No.4:999-1002

Michelinakis E, Vourexakis H. Tendon Transfer for Intrinsic-Muscle Paralysis of the Thumb in Charcot-Marie-Tooth Disease. The Hand 1981/Volume 13 No.3:276-278

Miller MJ, Williams LL, et al. The Hand in Charcot-Marie-Tooth Disease. The Journal of Hand Surgery British Volume 1991/16B:191-196

- FEET
Alexander IJ, Johnson KA. Assessment and Management of Pes Cavus in Charcot-Marie-Tooth Disease. Clinical Orthopaedics 1989/Volume 246:273-281

Saltzman, CL, Fehrle MJ, et al. Triple Arthrodesis: Twenty-five and Forty-four-Year Average Follow-up of the Same Patients. The Journal of Bone and Joint Surgery 1999 Vol.81-A, No.10:1391-1402

Santavirta S, Turunen V, et al. Foot and ankle fusions in Charcot-Marie-Tooth disease. Archives of Orthopaedic and Trauma Surgery 1993/112:175-179

Wetmore RS, Drennan JC. Long-Term Results of Triple Arthrodesis in Charcot-Marie-Tooth Disease. The Journal of Bone and Joint Surgery 1989/Vol.71A No.3:417-422.

TESTING:
Bird TD, Bennet RL. Why Do DNA Testing? Practical and Ethical Implications of New Neurogenetic Tests. Annals of Neurology 1995/38:141-146

Goodridge AE. Applications and Limitations of Electromyography and Nerve-Conduction Studies. Can.Fam.Physician 1988/34:339-343

TREATMENT
Birch JG. Orthopedic Management of Neuromuscular Disorders in Children. Seminars in Pediatric Neurology Vol.5 No.2 (June) 1998:pp78-91

Carroll NC. Neuromuscular deformities. Current Opinion in Orthopedics 1997, 8:VI:24-27

Hassel B. Improvement of Muscle Function in Charcot-Marie-Tooth Disease by Transcutaneous Electric Nerve Stimulation. Muscle & Nerve Letters to the Editor Feb.1998/267-8

Lissett CA; Toogood AA; et al. Growth Hormone Replacement in an adult with mild growth hormone deficiency and hereditary motor and sensory neuropathy: growth hormone restores independent mobility. Horm Res 1998; 50:232-6

Martini R; Berciano J; Van Broeckhoven C. 5th Workshop of the European CMT Consortium, 69th ENMC International Workshop: Therapeutic approaches in CMT neuropathies and related disorders. Neuromuscular Disorders 10 (2000) 69-74

McDonald CM. Limb Contractures in Progressive Neuromuscular Disease and the Role of Stretching, Orthotics, and Surgery. Rehabilitation of Neuromuscular Disease. 1998/Vol.9 No.1: 87-211

Russell JW, Windebank AJ, et al. Treatment of Stable Chronic Demyelinating Polyneuropathy With 3,4-Diaminopyridine. Mayo Clin Proc 1995; 70:532-539

Sigford BJ; Lanham RA Jr. Cognitive, psychosocial, and educational issues in neuromuscular disease. 88 REFS Phys Med Rehabil Clin N Am 1998 Feb; 9 (1): 249-70

TYPES:
Alagiakrishnan K; Schoenberger SL; et al. Ehlers-Danlos Syndrome Type IV with Charcot Marie Tooth Disease- An unusual combination. J Clin Rheumatol 1999 5:215-218

Auer-Grumbach M; Loscher WN; Wager K; Petek E; et al. Phenotypic and genotypic heterogeneity in hereditary motor and neuronopathy type V. A clinical, electrophysiological and genetic study. Brain (2000), 123, 1612-1623

Auer-Grumbach M, Wagner K, et al. Clinical Predominance of Proximal Upper Limb Weakness in CMT1A Syndrome. Muscle & Nerve 2000/23:1243-1249

Berciano J, Garcia A, Calleja J, Combarros O; Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscular Disorders 10 (2000) 419-424

Burkhard C; Mildenberger I; Schiefer U. [Hereditary motor and sensory neuropathy type 1 associated with a unilateral incomplete external oculomotor paralysis. A case report]. Ophthalmologe 2000 Jul; 97 (7): 498-502
(Abstract only - German)

Combarros-Pascual O. [Type 2 Charcot-Marie-Tooth disease?]. Rev Neurol 2000 Jan 1-15; 30 (1): 79-81
(Abstract only - Spanish)

Bellone E; DiMaria E; et al. A Novel Mutation (D305V) in the Early Growth Response 2 Gene is Associated with Severe Charcot-Marie-Tooth Type I Disease. HUMU Online 1999 353-354

Bertini E, Sabatelli M, et al. Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: New cases of Troyer-like syndrome. European Journal of Paediatric Neurology 1998; 2:245-254

Bird TD. Historical Perspective of Defining Charcot-Marie-Tooth Type 1B. Reprinted from Charcot-Marie-Tooth Disorders Vol.883 of the Annals of the New York Academy of Sciences 1999 (6-13)

Birouk N; Brice A; VanBroeckhoven C; et al. 4th Workshop of the European CMT-Consortium-62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands. Neuromuscular Disorders 9 (1999) 279-287

Carter GT, Abresch RT, et al. Profiles of Neuromuscular Diseases-Hereditary Motor and Sensory Neuropathy, Types I and II. American Journal of Physical Medicine and Rehabilitation 1995/Vol.74 (Suppl) No.5:S140-S149

Chapon F.; Latour P.; et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-782

DeJonghe P; Timmerman V; et al. A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype. Arch Neurol. 1999;56:1283-1288

De Jonghe P; Timmerman V; et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain (1999) 122, 281-90

Dupre N; Bouchard JP; et al. Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication. Can. J. Neurol. Sci. 1999 26:196-200

Dyck PJ, Swanson, et al. Prednisone-Responsive Hereditary Motor and Sensory Neuropathy. Mayo Clin Proc 1982/57:239-256

Eckhardt SME, Hicks EM, et al. New Form of Autosomal-Recessive Axonal Hereditary Sensory Motor Neuropathy. Pediatric Neurology 1998/Vol.19 No.3:234-235

Felice KJ; Seltzer WK. Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G C),W44X(G A)] in the Connexin 32 Gene. Eur Neurol 2000;44:61-63

Fuchs C.; Liehr T.; et al. Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: A Sacl polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis. Neurogenetics 1998 2:43-46

Gemignani F; Marbini A. Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. Journal of the Neurological Sciences 184 (2001) 1-9

Gutierrez A; England JD; et al. Unusal electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle & Nerve 2000; 23:182-188

Haites NE.; Nelis E; Van Broeckhoven C. 3rd Workshop of the European CMT consortium: 54th ENMC International Workshop of genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. Neuromuscular Disorders 8 1998:591-603

Kamholz J; Menichella D; et al. Charcot-Marie-Tooth disease type 1 - Molecular pathogenesis to gene therapy. Brain 2000; 123:222-233

Krajewski KM; Lewis RA; Fuerst DR; Turansky C; et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain (2000), 123, 1516-1527

Lupski JR. Recessive Charcot-Marie-Tooth disease. Annals of Neurology 2000; 47:6-8

Mersiyanova IV; Perepelov AV; Polyakov AV; Sitnikov VF; et al. A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene. Am. J. Hum. Genet. 67:37-46, 2000

Nelis E; Haites N; Van Broeckhoven C Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.135 REFS Hum Mutat 1999; 13 (1): 11-28

Ohnishi A; Aoki A; Yamamoto T; Tsuji S. [A case of Charcot-Marie-Tooth disease 1B with Val 146Phe mutation of myelin protein zero showing severe clinical phenotype]. Rinsho Shinkeigaku 2000 Mar; 40 (3): 268-70(Abstract only - Japanese)

Ohnishi A; Yamamoto T; Izawa K; et al. Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22. Acta Neuropathol (2000)

Palau F, Lofgren A, et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Human Molecular Genetics 1993/Vol.2 No.12:2031-2035

Pfeiffer G, Wicklein EM, et al. Disability and quality of life in Charcot-Marie-Tooth disease type 1. J. Neurol Neurosurg Psychiatry 2001; 70:548-550

Rozear MP, Pericak-Vance MA, et al. Hereditary motor and sensory neuropathy, X-linked: A half century follow-up. Neurology 1987/37:1460-1465

Sabatelli M, Mignogna T, et al. Hereditary Motor and Sensory Neuropathy with Deafness, Mental Retardation, and Absence of Sensory Large Myelinated Fibers: Confirmation of a New Entity. Am. J. Med. Genet. 1998/75:309-313

Sambuughin N; Sivakumar K; et al. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot- Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998 Nov 26; 161 (1): 23-8

Tabaraud F; Lagrange E; et al. Demyelinating X-Linked Charcot-Marie-Tooth Disease: Unusual Electrophysiological Findings. Muscle Nerve 1999 22:1442-1447

Thomas P.K.; Claus D.; King R.H.M. Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy. J Neurol 1999 246:107-11

Villanova M, Timmerman V. Charcot-Marie-Tooth disease: an intermediate form. Neuromuscular Disorders 8 1998/392-393

Vital A.; Ferrer X.; Lagueny A.; Vandenberghe A.; Latour P.; Goizet C.; Canron M.-H.; Louiset P.; Petry K.G.; Vital C. Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations. Journal of the Peripheral Nervous System 2001 6/2 (79-84)

Zhao C; Takita J; Tanaka Y; et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1 Bbeta. Cell 2001 June 1; 105 (5) 587-97

- Type III (Dejerine-Sottas)
Ionasescu VV, Searby C, Greenberg SA. Dejerine-Sottas disease with sensorinerual hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. Journal of Medical Genetics 1996; 33:1048-1049

Ionasescu VV, Searby C, et al. Dejerine-Sottas Neuropathy in Mother and Son with Same Point Mutation of PMP22 Gene. Muscle & Nerve Jan.1997; 20:97-99

Parman Y; Plante-Bordeneuve V; et al. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Ann Neurol 1999 Apr; 45 (4): 518-22

VOCAL CORD:
Crumley R. Treatment of Vocal Cord Paralysis. Epitomes (Otolaryngology/Head and Neck Surgery)

Donaghy M; Kennett R. Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. J Neurol 1999; 246:552-555

Dray TG; Robinson LR; Hillel AD. Laryngeal Electromyographic Findings in Charcot-Marie-Tooth Diseae Type II. Arch Neurol 1999 56:863-865

Dyck, PJ, Litchy WJ, et al. Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis. Annals of Neurology 1994/Vol.35 No.5:608-615

Holinger PC, Vuckovich DM, et al. Bilateral Abductor Vocal Cord Paralysis in Charcot-Marie-Tooth Disease. Annals of Otology 88 1979/205-209

Lacy P.D.; Hartley B.E.; Rutter M.J.; Cotton R.T. Familial bilateral vocal cord paralysis and Charcot-Marie-Tooth disease type II-C. Archives of Otolaryngology - Head and Neck Surgery 2001 127/3 (322-324)

Mcaffrey TB, Lipton R. Transcutaneous Teflon Injection for Paralytic Dysphonia. Laryngoscope 99 May 1989

Sevilla T; Cuesta A; et al. Severe Autosomal Recessive Charcot-Marie-Tooth Axonal neuropathy with vocal cord paresis. Acta Gyologica 1999: U.3:97

Strasnick B, Berke G, et al. Transcutaneous Teflon Injection for Unilateral Vocal Cord Paralysis: An Update. Laryngoscope 101 July 1991-an update

Swarts NK. Vocal Cord Paralysis - Treatment with Teflon Paste Injections. AORN Journal 1992/Vol.53 No.1

WORK & EDUCATION:
Andries F, Wevers CWJ, et al. Vocational perspectives and neuromuscular disorders. International Journal of Rehabilitation Research 1997/20:255-273

Kilmer D, Aitkens S, Wright N, McCrory M. Simulated Work Performance Tasks in Persons With Neuropathic and Myopathic Weakness. Archives of Physical Medical Rehabilitation Vol. 81, July 2000:938-943