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CHEDDA

Chr 12

atrophin 1

Also known as: B37, CHEDDA, D12S755E, DRPLA, HRS, NOD

NCBI Gene: 1822

The encoded protein contains serine repeats and alternating acidic-basic amino acid regions, with expansion of CAG/CAA trinucleotide repeats from normal 7-35 copies to pathogenic 49-93 copies causing dentatorubral pallidoluysian atrophy (DRPLA). DRPLA presents with cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia, while other mutations cause congenital hypotonia, epilepsy, developmental delay, and digital anomalies. Inheritance is autosomal dominant.

GeneReviews ResearchSummary from RefSeq, OMIM

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

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