Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease
Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable fr...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
2014-05-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000500356&lng=en&tlng=en |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850237370446643200 |
|---|---|
| author | Hsin Fen Chien Tamires Rocha Figueiredo Marianna Almeida Hollaender Fabiano Tofoli Leonel Takao Takada Lygia da Veiga Pereira Egberto Reis Barbosa |
| author_facet | Hsin Fen Chien Tamires Rocha Figueiredo Marianna Almeida Hollaender Fabiano Tofoli Leonel Takao Takada Lygia da Veiga Pereira Egberto Reis Barbosa |
| author_sort | Hsin Fen Chien |
| collection | DOAJ |
| description | Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size. |
| format | Article |
| id | doaj-art-1cafc1778dbe428c8d048f422d4e0d68 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2014-05-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-1cafc1778dbe428c8d048f422d4e0d682025-08-20T02:01:45ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272014-05-0172535635910.1590/0004-282X20140019S0004-282X2014000500356Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s diseaseHsin Fen ChienTamires Rocha FigueiredoMarianna Almeida HollaenderFabiano TofoliLeonel Takao TakadaLygia da Veiga PereiraEgberto Reis BarbosaMutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000500356&lng=en&tlng=endoença de ParkinsonLRRK2genética |
| spellingShingle | Hsin Fen Chien Tamires Rocha Figueiredo Marianna Almeida Hollaender Fabiano Tofoli Leonel Takao Takada Lygia da Veiga Pereira Egberto Reis Barbosa Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease Arquivos de Neuro-Psiquiatria doença de Parkinson LRRK2 genética |
| title | Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease |
| title_full | Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease |
| title_fullStr | Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease |
| title_full_unstemmed | Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease |
| title_short | Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease |
| title_sort | frequency of the lrrk2 g2019s mutation in late onset sporadic patients with parkinson s disease |
| topic | doença de Parkinson LRRK2 genética |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000500356&lng=en&tlng=en |
| work_keys_str_mv | AT hsinfenchien frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT tamiresrochafigueiredo frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT mariannaalmeidahollaender frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT fabianotofoli frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT leoneltakaotakada frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT lygiadaveigapereira frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease AT egbertoreisbarbosa frequencyofthelrrk2g2019smutationinlateonsetsporadicpatientswithparkinsonsdisease |