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

作者：de Bot S T^*; Veldink J H; Vermeer S; Mensenkamp A R; Brugman F; Scheffer H; van den Berg L H; Kremer H P H; Kamsteeg E J; van de Warrenburg B P

来源：Journal of Neurology, 2013, 260(3): 869-875.

DOI：10.1007/s00415-012-6723-z

• Hereditary Spastic Paraplegia
• ATL1
• REEP1
• Sporadic
• Upper motor neuron disease
• Genetic screening

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.

• 出版日期2013-3