Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

doi:10.1136/jnnp.73.5.582

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Article

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2002

Muñoz E, Tolosa E, Pastor P, Martí M J, Valldeoriola F, Campdelacreu J, Oliva R

Abstract excerpt

BACKGROUND: Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene. OBJECTIVES: To search for the presence of parkin gene mutations in Spanish patients with Parkinson's disease (PD) and characterise the phenotype associated with these mutations. METHODS: Thirty seven PD patients with either early onset or autosomal recessive pattern of inheritance...

Topics

Adult
Age of Onset
DNA Mutational Analysis
Female
Homozygote
Humans
Incidence
Ligases
Male
Middle Aged
Parkinsonian Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Point Mutation

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Spain

Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 12397156
DOI: 10.1136/jnnp.73.5.582
PMCID: PMC1738117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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