scholarly journals TNR Gene Mutation in Familial Parkinson’s Disease: Possible Implications for Essential Tremor

2020 ◽  
Author(s):  
Michel Sáenz-Farret ◽  
Renato Puppi Munhoz ◽  
Alfonso Fasano ◽  
Carlos Zúñiga-Ramírez
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Essential Tremor ◽  
Gene Mutation ◽  
Familial Parkinson’S Disease

Saccadic Abnormalities in Familial Parkinson's Disease Associated with  -Synuclein (SNCA) Gene Mutation (PARK1) (P02.258)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P02.258-P02.258
Author(s):  
E. Pretegiani ◽  
R. Leigh ◽  
D. Zee ◽  
A. Federico ◽  
P. Piu ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Snca Gene ◽  
Familial Parkinson’S Disease

scholarly journals Mutation Analysis ofHTRA2Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Ya-Chao He ◽  
Pei Huang ◽  
Qiong-Qiong Li ◽  
Qian Sun ◽  
Dun-Hui Li ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Essential Tremor ◽  
Clinical Significance ◽  
Healthy Controls ◽  
Exonic Variant ◽  
Generation Family ◽  
Intron Boundary ◽  
Familial Parkinson’S Disease

Background.HTRA2has already been nominated as PARK13 which may cause Parkinson’s disease, though there are still discrepancies among these results. Recently, Gulsuner et al.’s study found thatHTRA2p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson’s disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson’s disease. We performed this study to validate the condition ofHTRA2gene in Chinese familial essential tremor and familial Parkinson’s disease patients, especially essential tremor.Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson’s disease patients, and 100 healthy controls.Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups.Conclusions.HTRA2exonic variant might be rare among Chinese Parkinson’s disease and essential tremor patients with family history, andHTRA2may not be the cause of familial Parkinson’s disease and essential tremor in China.

scholarly journals A Prospective Study of 50 Cases of Familial Parkinson’s Disease

1983 ◽  
Vol 10 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Madeleine Roy ◽  
Liette Boyer ◽  
André Barbeau
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Prospective Study ◽  
Essential Tremor ◽  
Control Group ◽  
Control Groups ◽  
Genetic Transmission ◽  
Post Surgery ◽  
A Prospective Study ◽  
Familial Parkinson’S Disease

SUMMARY:In a recent paper (Barbeau and Pourcher, 1982) we demonstrated that so-called “idiopathic” Parkinson’s disease is not a homogeneous entity, and defined the existence of a sub-group of patients with genetic parkinsonism. To investigate this last possibility, and to uncover possible metabolic clues as to the etiology of such cases, we carried out a prospective study of 50 kindreds with “familial” parkinsonism. Two control groups were similarly studied: 50 kindreds with essential tremor (neurological control group) and 50 kindreds originating from spouses of the previous patients (non neurological control group). We uncovered two main patterns of genetic transmission within the parkinsonian patients: a parkinsonism related to dominant essential tremor (34 kindreds; 10% of all Parkinsonians) and a recessive “akineto-rigid syndrome” (10 kindreds; 3–4% of all Parkinsonians). A further 4 kindreds assumed a pseudo-dominant pattern but were probably recessive. Finally 2 kindreds were obviously other entities presenting as “phenocopies” of Parkinson’s disease. Metabolically, hyperthyroidism appeared to be more frequent in essential tremor and “essential-tremor related parkinsonism” kindreds, while hypothyroidism and possibly hypoparathyroidism (post surgery) seemed more frequent in the recessive akineto-rigid syndrome kindreds.

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant

scholarly journals Global efficiency of the motor network is decreased in Parkinson's disease in comparison with essential tremor and healthy controls

2021 ◽  
Author(s):  
Natalia Pelizari Novaes ◽  
Joana Bisol Balardin ◽  
Fabiana Campos Hirata ◽  
Luciano Melo ◽  
Edson Amaro ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Essential Tremor ◽  
Healthy Controls ◽  
Global Efficiency ◽  
Motor Network

scholarly journals Anatomical texture patterns identify cerebellar distinctions between essential tremor and Parkinson's disease

2021 ◽  
Author(s):  
Kilian Hett ◽  
Ilwoo Lyu ◽  
Paula Trujillo ◽  
Alexander M. Lopez ◽  
Megan Aumann ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Essential Tremor
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