Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

ABSTRACT:

Background

Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract.

Case presentation

One 23-years-old patient suffers from a severe ataxia, with early-onset and rapid progression of the disease. His father might have been affected, but no molecular confirmation has been performed. The genetic results were negative for the Friedreich's ataxia, spinocerebellar ataxia type 2, 3, 6, 7 and 17. The numbers of CAG repeats in the ATXN1 gene was assessed by fluorescent PCR, tripled-primed PCR and enzymatic digestion for the search of sequence interruption in the CA

SUBMITTER: Baille G 

PROVIDER: S-EPMC11406724 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature