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A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3
- Source :
- BMC Neurology, BMC Neurology, 2016, 16 (1), pp.238. ⟨10.1186/s12883-016-0748-3⟩, BMC Neurology, BioMed Central, 2016, 16 (1), pp.238. ⟨10.1186/s12883-016-0748-3⟩
- Publication Year :
- 2016
- Publisher :
- Springer Science and Business Media LLC, 2016.
-
Abstract
- International audience; BACKGROUND: Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C, p. R484 W and p. S685G mutations.METHODS: Between June 2011 and November 2013, all consecutive patients suspected with ET were prospectively included in a prospective, monocentric study. Family history, age at onset (AAO), features of tremor, benefit of alcohol and drugs, electrophysiological recording findings were collected. Sanger sequencing was performed for HTRA2 and ANO3 mutations screening.RESULTS: Sixty eight patients were investigated. Fourteen diagnosed with psychogenic (5) or dystonic tremor (9) were excluded. Regarding the 54 ET patients, mean AAO was 48 years (6-77), and mean disease duration 15 years (1-55). Bimodal distribution of AAO was consistent with phenotypic subgroups. In patients with AAO before 30 years, marked benefit of alcohol (p
- Subjects :
- Male
0301 basic medicine
Pathology
Neurology
ANO3
0302 clinical medicine
Prospective Studies
Age of Onset
Family history
Aged, 80 and over
Sanger sequencing
Essential tremor
Extreme phenotype
Serine Endopeptidases
General Medicine
High-Temperature Requirement A Serine Peptidase 2
Middle Aged
Dystonic Disorders
Electrophysiological recording
symbols
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Female
Neurosurgery
Research Article
Adult
medicine.medical_specialty
Adolescent
Essential Tremor
Anoctamins
Mitochondrial Proteins
Young Adult
03 medical and health sciences
symbols.namesake
Chloride Channels
Internal medicine
medicine
Humans
Psychogenic disease
Neurochemistry
[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Genetic Association Studies
Aged
HTRA2
business.industry
medicine.disease
030104 developmental biology
Mutation
Neurology (clinical)
Differential diagnosis
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 14712377
- Volume :
- 16
- Database :
- OpenAIRE
- Journal :
- BMC Neurology
- Accession number :
- edsair.doi.dedup.....4fd2ea1532fa2ad6c57c3f71398f378d