MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001A80

HS1-BP3 gene variant is common in familial essential tremor

Identifieur interne : 001A80 ( PascalFrancis/Checkpoint ); précédent : 001A79; suivant : 001A81

HS1-BP3 gene variant is common in familial essential tremor

Auteurs : Joseph J. Higgins [États-Unis] ; Roni Q. Lombardi [États-Unis] ; Joanna Pucilowska [États-Unis] ; Joseph Jankovic [États-Unis] ; Lawrence I. Golbe [États-Unis] ; Leo Verhagen [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0208436

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Tremblement, Parkinson maladie, Chromosome, Homme, Mutation, Protéine.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Chromosome, Human, Mutation, Nervous system diseases, Parkinson disease, Protein, Tremor.

Abstract

Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head. or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET. 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C→G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.

Affiliations:

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<front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head. or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET. 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C→G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.</div>
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<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
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<name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
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   |texte=   HS1-BP3 gene variant is common in familial essential tremor
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	Movement Disorders (revue)
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Movement Disorders (revue)

HS1-BP3 gene variant is common in familial essential tremor

HS1-BP3 gene variant is common in familial essential tremor

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