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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneHEXA
Other namesTSD; MGC99608
Gene namehexosaminidase A (alpha polypeptide)
Gene inheritance categorySALS genes
CategoryOTHER PROCESSES
Chromosome15q23
Genomic CoordinatesChr15:72635778-72668520 ( -)
BackgroundHexA deficiency causes accumulation of ganglioside GM2 leads to neurodegeneration causing wide spectrum of neurological diseases
ResultOccasionally causes rare ALS-like syndrome
Total Mutations0
Total Affected0

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KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Drory2003Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosisFull_Paper
 
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