Literature DB >> 1838393

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

D Barnes1, V P Misra, E P Young, P K Thomas, A E Harding.   

Abstract

A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.

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Year:  1991        PMID： 1838393      PMCID： PMC1014692          DOI： 10.1136/jnnp.54.12.1112

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


  8 in total

1.  Hexosaminidase A activity and amyotrophic lateral sclerosis.

Authors:  M Gudesblatt; M D Ludman; J A Cohen; R J Desnick; S Chester; G A Grabowski; J T Caroscio
Journal:  Muscle Nerve       Date:  1988-03       Impact factor: 3.217

2.  Hexosaminidase A deficiency presenting as juvenile progressive dystonia.

Authors:  R J Hardie; E P Young; J A Morgan-Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-03       Impact factor: 10.154

3.  The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.

Authors:  N Specola; M T Vanier; F Goutières; J Mikol; J Aicardi
Journal:  Neurology       Date:  1990-01       Impact factor: 9.910

4.  The clinical spectrum of hexosaminidase deficiency diseases.

Authors:  W G Johnson
Journal:  Neurology       Date:  1981-11       Impact factor: 9.910

5.  Hexosaminidase A deficiency in adults.

Authors:  R Navon; Z Argov; A Frisch
Journal:  Am J Med Genet       Date:  1986-05

6.  Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration.

Authors:  H Mitsumoto; R J Sliman; I A Schafer; C S Sternick; B Kaufman; A Wilbourn; S J Horwitz
Journal:  Ann Neurol       Date:  1985-04       Impact factor: 10.422

7.  Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.

Authors:  A E Harding; E P Young; F Schon
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-06       Impact factor: 10.154

8.  Qualitative and quantitative morphology of human sural nerve at different ages.

Authors:  J M Jacobs; S Love
Journal:  Brain       Date:  1985-12       Impact factor: 13.501
  8 in total
  2 in total

Review 1.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

Review 2.  Current Perspective of Stem Cell Therapy in Neurodegenerative and Metabolic Diseases.

Authors:  Ajay Kumar; Karthikeyan Narayanan; Ravi Kumar Chaudhary; Sachin Mishra; Sundramurthy Kumar; Kumar Jayaseelan Vinoth; Parasuraman Padmanabhan; Balázs Gulyás
Journal:  Mol Neurobiol       Date:  2016-11-04       Impact factor: 5.590
  2 in total

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