Literature DB >> 7365507

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature.

A E Harding, P K Thomas.   

Abstract

A description is given of 34 patients with the distal form of hereditary spinal muscular atrophy. This disorder constitutes one form of "peroneal muscular atrophy". It resembles types I and II hereditary motor and sensory neuropathy but differs from them in displaying less upper limb weakness, relative preservation of the tendon reflexes and an entirely normal clinical sensory examination. Motor nerve conduction velocity and sensory nerve action potentials are normal. Previous reports of this disorder are reviewed and compared with the present series.

Entities:  

Mesh:

Year:  1980        PMID: 7365507     DOI: 10.1016/0022-510x(80)90177-x

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  26 in total

1.  [Motor neuron diseases].

Authors:  S Petri; T Meyer
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

2.  SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Authors:  A Hanash; E Leguern; N Birouk; O Clermont; J Pouget; P Bouche; A Munnich; A Brice; J Melki
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

Authors:  E Boltshauser; W Lang; T Spillmann; E Hof
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

4.  Distal hereditary upper limb muscular atrophy.

Authors:  D W Gross; A H Rajput; M Yeung
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-02       Impact factor: 10.154

Review 5.  Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.

Authors:  D Pareyson; V Scaioli; M Laurà
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

Review 6.  Unraveling the genetics of distal hereditary motor neuronopathies.

Authors:  Joy Irobi; Ines Dierick; Albena Jordanova; Kristl G Claeys; Peter De Jonghe; Vincent Timmerman
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

7.  Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.

Authors:  I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska; W Szirkowiec
Journal:  J Med Genet       Date:  1984-12       Impact factor: 6.318

8.  A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

Authors:  P Fleury; G Hageman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-10       Impact factor: 10.154

9.  Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Authors:  Joy Irobi; Leonardo Almeida-Souza; Bob Asselbergh; Vicky De Winter; Sofie Goethals; Ines Dierick; Jyothsna Krishnan; Jean-Pierre Timmermans; Wim Robberecht; Peter De Jonghe; Ludo Van Den Bosch; Sophie Janssens; Vincent Timmerman
Journal:  Hum Mol Genet       Date:  2010-06-10       Impact factor: 6.150

10.  Hereditary motor neuropathy, distal type: electrophysiological and pathological studies of a case.

Authors:  E Bottacchi; R Nemni; M Camerlingo; P Gambaro; M Corbo; A Mamoli
Journal:  Ital J Neurol Sci       Date:  1985-12
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.