Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations
International audience ; BACKGROUND: In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form. OBJECTIVE: To provide the clinical and genetic characteristics of Dutch patients with HSP due to a SPAST mutation (SPG4). METHODS: SPAST mutation carriers were identified through a comprehensive national database search. Available medical records were reviewed. RESULTS: 151 mutation carriers carried 60 different changes in the SPAST gene, of which one was a known p... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2010 |
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HAL CCSD
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Schlagwörter: | GENETICS / HEREDIT SPASTIC PARAPLEGIA / TREMOR |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26619259 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hal.science/hal-00557440 |