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.
Original language | English |
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Pages (from-to) | 869-875 |
Number of pages | 7 |
Journal | Journal of Neurology |
Volume | 260 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar-2013 |
Keywords
- Hereditary Spastic Paraplegia
- ATL1
- REEP1
- Sporadic
- Upper motor neuron disease
- Genetic screening
- DOMINANT SPASTIC PARAPLEGIA
- LATERAL-SCLEROSIS
- ONSET
- ATLASTIN
- SPECTRUM
- FREQUENT
- SPG3A