All individuals with variants in gene SNCA

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00312643 - PubMed: Chartier-Harlin 2004 1/9 families - - - - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312644 - PubMed: Ibanez 2004 2/119 PD cases - - - - - - - - PARK - 1 2 The Parkinson's Institute - Birgitt Schuele
00312645 - PubMed: Nishioka 2006 PubMed: Obi 2008 familial AD-PD - - Japan - - - - - PARK PatB-1 onset 47y 1 2 The Parkinson's Institute - Birgitt Schuele
00312646 - PubMed: Ikeuchi 2008 1 hom, 3het - - - - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312647 - PubMed: Ahn et al 1 familial, 2 sporadic cases of 906 PD patients, each patient had asymptomatic carriers in their families. The familial case had early onset parkinsonism with rapidly progressive course, cognitive impairment, and dysautonomia. Sporadic cases were more typical of PD. - - Korea - - - - - PARK - 1 3 Krisztina Johansen
00312648 - PubMed: Ikeuchi 2008 Four-generation family, 3 patients were heterozygous for SNCA duplication and 1 patient was homozygous for SNCA duplication. The homozygous patient showed earlier age at onset and earlier death, with more severe cognitive impairment than the heterozygous patients. - - Japan - - - - - PARK onset 28y (homozygous), 39y-71y (heterozygous) 1 1 The Parkinson's Institute - Birgitt Schuele
00312649 - PubMed: Brueggemann 2008 1/403; 0.25%, negative family history,early onset idiopathic PD, frontal release signs and bilateral horizontal gaze-evoked nystagmus, L-Dopa responsive F - Germany - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312650 - PubMed: Troiano 2008 1/101 early onset sporadic PD; European (84%), North African (4%) F - - - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312651 - PubMed: Uchiyama 2008 family (mother, son affected), psychiatric symptoms including attention impairment and visual hallucinations - - - Japanese - - - - PARK onset 47y (M), 73y (F) 1 1 The Parkinson's Institute - Birgitt Schuele
00312652 - PubMed: Ibáñez 2009 4/264 (1.5%) typical ADPD, 2 patients published earlier in Ibanez et al 2004 and Chartier-Harlin et al 2004, - - - Mainly European - - - - PARK - 1 2 The Parkinson's Institute - Birgitt Schuele
00312653 - PubMed: Nishioka 2009 4 new families, 1 sporadic patient out of 103 consecutive patients with autosomal dominant PD, overall penetrance 43.8%, Family A and B previously reported - - Japan - - - - - PARK - 1 5 The Parkinson's Institute - Birgitt Schuele
00312654 - PubMed: Sironi 2009 1/144, patient showed rapidly progressive disease with early motor complications F - Italy - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312655 - PubMed: Singleton 2003 Iowa kindred - - - white - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312656 - PubMed: Farrer 2004 linked to a family described by Mjones (1949); different branch of family found with duplication of the SNCA gene M - Sweden - - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312657 - PubMed: Ibáñez 2009 1/22 (4.5%) atypical AD parkinsonism- triplication - - - Mostly European - - - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00312658 - PubMed: Kruger 1988 - - - - - - - - - PARK - 1 - The Parkinson's Institute - Birgitt Schuele
00312659 - PubMed: Zarranz 2004 - - - - - - - - - ? - 1 - The Parkinson's Institute - Birgitt Schuele
00312660 - PubMed: Kiely 2013 - M - United Kingdom (Great Britain) - - - - LDopa responsive PARK bradykinesia; resting tremor (HP:0002322); rigidity (HP:0002063); postural instability (HP:0002172); asymmetric onset; no dystonia (-HP:0001332); normal REM sleep (-HP:0002494); visual and verbal memory impairments, later developed visual hallucinations, last 8y seizures; progressive cognitive impairment; atrophy affecting frontal and temporal lobes, caudate, putamen, globus pallidus, and amygdala, neuronal loss; father developed similar symptoms at 39y, later developed dementia, 47y-died; sister developed parkinsonism at age 40, no cognitive impairment, still living at time of report. 1 1 The Parkinson's Institute - Birgitt Schuele
00312662 - PubMed: Markopoulou 2008 - - - - - - - - - PARK - 1 - The Parkinson's Institute - Birgitt Schuele
00312663 - PubMed: Polymeropoulos 1997 - - - - - - - - - PARK - 1 - The Parkinson's Institute - Birgitt Schuele
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.