Abstract
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.
| Original language | English |
|---|---|
| Pages (from-to) | 15-18 |
| Number of pages | 4 |
| Journal | Parkinsonism and Related Disorders |
| Volume | 14 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2008 |
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Keywords
- Essential tremor
- Linkage analysis
- Neurological disease
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Neurology
Cite this
Further evidence of genetic heterogeneity in familial essential tremor. / Aridon, Paolo; Ragonese, Paolo; De Fusco, Maurizio; Salemi, Giuseppe; Casari, Giorgio; Savettieri, Giovanni.
In: Parkinsonism and Related Disorders, Vol. 14, No. 1, 01.2008, p. 15-18.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Further evidence of genetic heterogeneity in familial essential tremor
AU - Aridon, Paolo
AU - Ragonese, Paolo
AU - De Fusco, Maurizio
AU - Salemi, Giuseppe
AU - Casari, Giorgio
AU - Savettieri, Giovanni
PY - 2008/1
Y1 - 2008/1
N2 - Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.
AB - Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.
KW - Essential tremor
KW - Linkage analysis
KW - Neurological disease
UR - http://www.scopus.com/inward/record.url?scp=38349173861&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=38349173861&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2007.05.002
DO - 10.1016/j.parkreldis.2007.05.002
M3 - Article
C2 - 17703985
AN - SCOPUS:38349173861
VL - 14
SP - 15
EP - 18
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
IS - 1
ER -