An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

ABSTRACT:

Background

Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases.

Methods

We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. Oculomotor apraxia was absent. Clinical and genetic data did not allow us to exclude autosomal dominant or recessive inheritance and suggest a disease gene.

Results

Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p.Gly116Arg) mutation in AFG3L2 shared by all three affected individuals. A fourth sister (II.7) had subc

SUBMITTER: Mancini C 

PROVIDER: S-EPMC4422141 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature