Clinical Findings and Genetic Screening for Copy Number Variation Mutations in a Cohort of South African Patients with Parkinson's Disease
S. Afr. med. j. (Online)
;
106(6): 623-625, 2016.
Artigo
em Inglês
| AIM
| ID: biblio-1271108
ABSTRACT
BACKGROUND:
Parkinson's disease (PD); with a prevalence of up to 4% in Western countries; appears to be less common in Africa; possibly in part because of genetic factors. African studies investigating the genetic causation of PD are limited.OBJECTIVE:
To describe the clinical and genetic findings in a group of black South African patients with PD.METHODS:
All black African patients with PD from a tertiary hospital neurology clinic were examined. Symptoms were scored according to the Unified Parkinson's Disease Rating Scale (UPDRS); and patients were classified according to motor features. Genomic DNA was extracted and multiplex ligation-dependent probe amplification was used for detection of copy number variation (CNV) mutations in the known PD-causing genes.RESULTS:
Sixteen patients were identified (ages 56 - 82 years). Three had a family history of PD. Classification into motor subtypes showed 44% mixed; 31% akinetic-rigid; and 25% tremor-dominant subtypes. UPDRS scores ranged from 7 to 88; with dementia in 20%. No patient had G2019S LRRK2 and A30P SNCA mutations; and all except one had no CNV mutations in the known PD-causing genes. A female patient (age of onset 50 years; no family history) had a parkin gene heterozygous deletion of exon 4. She had hyperreflexia; bilateral Hoffmann's reflexes; normal plantar responses and no dystonia.CONCLUSION:
This group of black African patients showed similar characteristics to patients in Western studies; possibly with a higher proportion having tremor-dominant disease. Genetic analysis showed one parkin gene mutation. The limited knowledge on PD-causing genes and mutations in black populations warrants further studies involving next-generation sequencing approaches
Texto completo:
DisponíveL
Índice:
AIM (África)
Assunto principal:
Doença de Parkinson
/
Efeito de Coortes
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Idioma:
Inglês
Revista:
S. Afr. med. j. (Online)
Ano de publicação:
2016
Tipo de documento:
Artigo
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