Natural course of pontocerebellar hypoplasia type 2A.

ABSTRACT:

Introduction

Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim was to describe the natural course including neurological and developmental features and other aspects of care in a homogeneous group of PCH2 patients all carrying the p.A307S mutation.

Patients and methods

Patients were recruited via the German patients' organizations. Inclusion criteria were imaging findings of PCH2 and a p.A307S mutation. Data were collected using medical reports and patient questionnaires discussed in a standardized telephone interview.

Results

Thirty-three

SUBMITTER: Sanchez-Albisua I 

PROVIDER: S-EPMC4019562 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature