A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
Neurology
; 71(4): 248-52, 2008 Jul 22.
Article
en En
| MEDLINE
| ID: mdl-18463364
ABSTRACT
BACKGROUND:
The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous neurodegenerative disorders in which the cardinal pathologic feature is upper motor neuron degeneration leading to progressive spasticity and weakness of the lower limbs. To date, 14 autosomal recessive HSP loci have been mapped.METHODS:
We have identified a large consanguineous Omani family in which an autosomal recessive form of HSP is segregating. The age at onset varied from 6 to 11 years and the course of the disease is progressive with intellectual disability and is associated with seizures in two individuals. To map the chromosomal location of the causative gene we undertook 250K gene chip SNP analyses of all affected individuals assuming that a founder mutation was responsible.RESULTS:
All affected individuals shared a 20.4 Mb (3.25 cM) region of homozygosity located on chromosome 16q21-q23.1, defined by SNP markers rs149428 and rs9929635 (peak multipoint lod score of 4.86). Two candidate genes, dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2) and vacuolar protein sorting 4 homolog A (VPS4A), were sequenced but no disease causing mutations were identified.CONCLUSION:
We have mapped the chromosomal location of a novel gene responsible for a form of hereditary spastic paraplegia (HSP) (SPG35) and defined its clinical presentation.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 16
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Paraplejía Espástica Hereditaria
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Predisposición Genética a la Enfermedad
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Neurology
Año:
2008
Tipo del documento:
Article
País de afiliación:
Reino Unido