Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

The Cerebellum
Chih-Chun LinSheng-Han Kuo

Abstract

Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.

References

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Aug 23, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·M HadjivassiliouR A Grünewald
Oct 1, 2008·Annals of Neurology·Marios HadjivassiliouDaniel Aeschlimann
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Citations

May 20, 2020·Neurology. Genetics·Yanxing ChenKang Wang
Apr 14, 2020·Neurologic Clinics·Kimberly Tsu Kwei, Sheng-Han Kuo

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Methods Mentioned

BETA
exome sequencing
biopsy

Software Mentioned

SIFT
MUTATIONTASTER

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