Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

ABSTRACT: Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and severe and life limiting in children. We report seven individuals with an early-onset spastic-ataxia phenotype. The individuals come from three families of different ethnic backgrounds. Affected members of two families had childhood onset disease with very slow progression. They are still alive in their 30s and 40s and show predominant ataxia and ce

SUBMITTER: Chelban V 

PROVIDER: S-EPMC5473715 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature