Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).
Neurology
; 66(3): 421-3, 2006 Feb 14.
Article
en En
| MEDLINE
| ID: mdl-16476945
ABSTRACT
The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. This apparent missense mutation in the ATPase domain confers aberrant, in-frame splicing and results in destabilization of mutated transcript. Mutated protein is deficient in microtubule-severing activity but, unlike neighboring mutations, shows regular subcellular localization. The authors' data point to haploinsufficiency rather than a dominant negative effect as the disease-causing mechanism for this mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
/
Adenosina Trifosfatasas
/
Mutación Missense
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2006
Tipo del documento:
Article
País de afiliación:
Alemania