Exome sequencing in familial corticobasal degeneration.

ABSTRACT:

Background

Corticobasal degeneration (CBD) is a neurodegenerative, sporadic disorder of unknown cause. Few familial cases have been described.

Objective

We aim to characterize the clinical, imaging, pathological and genetic features of two familial cases of CBD.

Methods

We describe two first cousins with CBD associated with atypical MRI findings. We performed exome sequencing in both subjects and in an unaffected first cousin of similar age.

Results

The cases include a 79-year-old woman and a 72-year-old man of Native American and British origin. The onset of the neurological manifestations was 74 and 68 years respectively. Both patients presented with a combination of asymmetric parkinsonism, apraxia, myoclonic tremor, cortical sensory syndrome, and gait distu

SUBMITTER: Fekete R 

PROVIDER: S-EPMC4100470 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature