Format

Send to

Choose Destination
J Neurol. 2013 Mar;260(3):869-75. doi: 10.1007/s00415-012-6723-z. Epub 2012 Oct 30.

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

Author information

1
Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. ST.Bot@neuro.umcn.nl

Abstract

SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

PMID:
23108492
DOI:
10.1007/s00415-012-6723-z
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center