Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.

ABSTRACT:

Objective

To describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1 mutation causing SCA48.

Methods

We report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and genetic analyses (whole-exome sequencing, whole-genome sequencing, and linkage analysis) were performed on multiple family members.

Results

Patients presented with adult-onset gait disturbance (ataxia or parkinsonism), combined with prominent cognitive decline and behavioral changes. Whole-exome sequencing identified a novel heterozygous frameshift variant c.731_732delGC (p.C244Yfs*24) in STUB1 segregating with the disease. This variant was present in a linkage peak on chromosome 16p13.3. Neuropathologic examination of 3 cases reve

SUBMITTER: Mol MO 

PROVIDER: S-EPMC7164971 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature