Hereditary Motor and Sensory Neuropathy With Treatable Extrapyramidal Features

Jaradeh, Safwan; Dyck, Peter James

doi:10.1001/archneur.1992.00530260077024

Cited by 9 publications

References 17 publications

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Treatment for Charcot-Marie-Tooth disease

Young

Jonghe

Stögbauer

et al. 2008

Cochrane Database of Systematic Reviews

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Background Charcot-Marie-Tooth disease (CMT) comprises a large variety of different forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) and axonal forms (CMT2). The molecular basis of several CMT forms has been clarified during the last 15 years. Since muscle wasting and sensory disturbance are the main features of these syndromes, treatments aim to improve motor impairment and sensory disturbances. Specific treatment trials are rare. Objectives The objective was to review systematically all randomised and quasi-randomised studies of any treatment for CMT.

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Treatment for Charcot-Marie-Tooth disease

Young

Jonghe

Stögbauer

et al. 2008

Cochrane Database of Systematic Reviews

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Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion

Tuite

Rogaeva

George-Hyslop

et al. 1995

Annals of Neurology

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The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucleotide repeat of the MJD1 gene located on chromosome 14q32.1 in 2 patients of Azorean descent who presented with levodopa-responsive atypical parkinsonism. Previous publications have documented the presence of this expanded repeat in the other more common MJD phenotypes (I-III). To our knowledge, this is the first molecular biologic confirmation of the presence of the MJD1 gene in the subtype IV phenotype. Patients presenting with parkinsonism and peripheral neuropathy should be screened for this genetic defect.

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Hereditary motor–sensory neuropathy and movement disorders

Cardoso

Jankovic

1993

Muscle and Nerve

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To explore the relationship between hereditary motor and sensory neuropathy (HMSN) and movement disorders, we examined 7 patients with HMSN referred to our Movement Disorders Clinic and surveyed members of the Charcot-Marie-Tooth association. The following movement disorders were observed in the index patients: postural tremor in 6, rest tremor in 3, and Parkinsonism and dystonia in 2. Tremor, present in 40% of the 201 patients who responded to the survey, was first noted at a mean age of 36 years, and mostly involved the hands. Family history of tremor was more frequent in the tremor group (P < 0.005), which also had a significantly worse writing score than the nontremor group (P < 0.001). The overlap in clinical features between HMSN-associated tremor and essential tremor (ET), the high frequency of family history of tremor, and the lack of a relationship between the severity of tremor and of peripheral neuropathy suggest that the tremor in HMSN is pathogenically related to ET.

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Hereditary Motor and Sensory Neuropathy With Treatable Extrapyramidal Features

Cited by 9 publications

References 17 publications

Treatment for Charcot-Marie-Tooth disease

Treatment for Charcot-Marie-Tooth disease

Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion

Hereditary motor–sensory neuropathy and movement disorders

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