Literature DB >> 7964809

Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.

J A Frith1, J G McLeod, G A Nicholson, F Yang.   

Abstract

A large family with autosomal dominant inheritance of peroneal muscular atrophy, associated with extensor plantar responses in some cases, has been studied. Onset was usually in the first two decades and spasticity was not a feature. Nerve conduction studies in 21 cases and light and electron microscope findings on six sural nerve biopsies were similar to those in hereditary motor and sensory neuropathy type II.

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Year:  1994        PMID: 7964809      PMCID: PMC1073184          DOI: 10.1136/jnnp.57.11.1343

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  12 in total

1.  Hereditary spastic paraplegia; report of a family with associated extrapyramidal signs.

Authors:  A P DICK; C J STEVENSON
Journal:  Lancet       Date:  1953-05-09       Impact factor: 79.321

2.  Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V).

Authors:  A Schnider; C W Hess; S Koppi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-06       Impact factor: 10.154

3.  Hereditary spastic paraplegia with amyotrophy and pes cavus.

Authors:  H G GARLAND; C E ASTLEY
Journal:  J Neurol Neurosurg Psychiatry       Date:  1950-05       Impact factor: 10.154

4.  Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity.

Authors:  P K Thomas; D B Calne
Journal:  J Neurol Neurosurg Psychiatry       Date:  1974-01       Impact factor: 10.154

5.  Peroneal muscular atrophy with pyramidal features.

Authors:  A E Harding; P K Thomas
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-02       Impact factor: 10.154

6.  Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves.

Authors:  F Behse; F Buchthal
Journal:  Brain       Date:  1977-03       Impact factor: 13.501

7.  Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscope studies of the sural nerve.

Authors:  P A Low; J G McLeod; J W Prineas
Journal:  J Neurol Sci       Date:  1978-01       Impact factor: 3.181

8.  The clinical features of hereditary motor and sensory neuropathy types I and II.

Authors:  A E Harding; P K Thomas
Journal:  Brain       Date:  1980-06       Impact factor: 13.501

9.  Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.

Authors:  G A Nicholson; M L Kennerson; B J Keats; N Mesterovic; W Churcher; D Barker; D A Ross
Journal:  Am J Med Genet       Date:  1992-11-01

10.  Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study.

Authors:  D Claus; H M Waddy; A E Harding; N M Murray; P K Thomas
Journal:  Ann Neurol       Date:  1990-07       Impact factor: 10.422

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  2 in total

1.  MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Authors:  Obaid M Albulym; Marina L Kennerson; Matthew B Harms; Alexander P Drew; Anna H Siddell; Michaela Auer-Grumbach; Alan Pestronk; Anne Connolly; Robert H Baloh; Stephan Zuchner; Stephen W Reddel; Garth A Nicholson
Journal:  Ann Neurol       Date:  2016-01-13       Impact factor: 10.422

2.  Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

Authors:  Knut Brockmann; Steffi Dreha-Kulaczewski; Peter Dechent; Carsten Bönnemann; Gunther Helms; Marten Kyllerman; Wolfgang Brück; Jens Frahm; Kathrin Huehne; Jutta Gärtner; Bernd Rautenstrauss
Journal:  J Neurol       Date:  2008-04-21       Impact factor: 4.849

  2 in total

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