title: No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.
abstract: Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET.
authors.affiliation: Department of Oncology, Biology and Genetics, University of Genova, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pigullo
authors.forename: E
authors.initials: E
authors.lastname: Di Maria
authors.forename: R
authors.initials: R
authors.lastname: Marchese
authors.forename: A
authors.initials: A
authors.lastname: Assini
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: C
authors.initials: C
authors.lastname: Scaglione
authors.forename: C
authors.initials: C
authors.lastname: Vitale
authors.forename: U
authors.initials: U
authors.lastname: Bonuccelli
authors.forename: P
authors.initials: P
authors.lastname: Barone
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
authors.forename: P
authors.initials: P
authors.lastname: Martinelli
authors.forename: G
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: P
authors.initials: P
authors.lastname: Mandich
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D020865:Calcium Channels, P-Type / Q000235:genetics* / Q000378:metabolism; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007558:Italy; D008875:Middle Aged; D008881:Migraine Disorders / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D010455:Peptides / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics* / Q000378:metabolism; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D020865:Calcium Channels, P-Type; D010455:Peptides; D015221:Potassium Channels; C097188:polyglutamine