A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.

ABSTRACT:

Study objectives

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is caused by DNMT1 mutations. Diagnosing the syndrome can be difficult, as all clinical features may not be present at onset, HLA-DQB1*06:02 is often negative, and sporadic cases occur. We report on clinical and genetic findings in a 31-year-old woman with cerebellar ataxia, deafness, and narcolepsy, and discuss diagnostic challenges.

Design

Clinical and genetic investigation in a patient and family members.

Setting

Ataxia clinic, São Paulo, Brazil.

Patients or participants

One patient and her family members.

Interventions

N/A.

Measurements and results

Narcolepsy was supported by polysomnographic and multiple sleep latency testing. HLA-DQB1*06:02 was positive.

SUBMITTER: Pedroso JL 

PROVIDER: S-EPMC3700723 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature