The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
Neurology
; 64(11): 1958-60, 2005 Jun 14.
Article
en En
| MEDLINE
| ID: mdl-15955954
ABSTRACT
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
Buscar en Google
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Quinasas
/
Encéfalo
/
Trastornos Parkinsonianos
/
Enfermedades Mitocondriales
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Neurology
Año:
2005
Tipo del documento:
Article
País de afiliación:
Italia