Literature DB >> 571983

Spinocerebellar degeneration: hexosaminidase A and B deficiency in two adult sisters.

J G Oonk, H J van der Helm, J J Martin.   

Abstract

Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GM2 gangliosidosis.

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Year:  1979        PMID： 571983     DOI： 10.1212/wnl.29.3.380

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  9 in total

1.  Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.

Authors:  M Mondelli; A Rossi; S Palmeri; N Rizzuto; A Federico
Journal:  Ital J Neurol Sci       Date:  1989-08

2.  A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Authors:  M Gomez-Lira; A Sangalli; M Mottes; C Perusi; P F Pignatti; N Rizzuto; A Salviati
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

Review 3.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

4.  Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Authors:  K Neote; B McInnes; D J Mahuran; R A Gravel
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

5.  Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase.

Authors:  Tyler Mark Pierson; Paola A Torres; Bei-Jin Zeng; Allan M Glanzman; David Adams; Richard S Finkel; Don J Mahuran; Gregory M Pastores; Gihan I Tennekoon; Edwin H Kolodny
Journal:  Mol Genet Metab       Date:  2012-11-02       Impact factor: 4.797

6.  Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.

Authors:  K Inui; E E Grebner; L G Jackson; D A Wenger
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

7.  Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Authors:  H Schnorf; R Gitzelmann; N U Bosshard; M Spycher; W Waespe
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-11       Impact factor: 10.154

8.  Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

Authors:  P K Thomas; E Young; R H King
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-09       Impact factor: 10.154

9.  GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Authors:  Parvaneh Karimzadeh; Narjes Jafari; Habibeh Nejad Biglari; Sayena Jabbeh Dari; Farzad Ahmad Abadi; Mohammad-Reza Alaee; Hamid Nemati; Sasan Saket; Seyed Hasan Tonekaboni; Mohammad-Mahdi Taghdiri; Mohammad Ghofrani
Journal:  Iran J Child Neurol       Date:  2014
  9 in total

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