Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to bel...

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Veröffentlicht in:Tidsskrift for den Norske Lægeforening 2017-10, Vol.137 (20)
Hauptverfasser: Hoem, Gry, Koht, Jeanette
Format: Artikel
Sprache:eng
Schlagworte:
Ataxia - diagnosis
Ataxia - drug therapy
Ataxia - epidemiology
Ataxia - genetics
Diagnosis, Differential
Fragile X Syndrome - diagnosis
Fragile X Syndrome - drug therapy
Fragile X Syndrome - epidemiology
Fragile X Syndrome - genetics
Humans
Norway - epidemiology
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - drug therapy
Parkinsonian Disorders - epidemiology
Parkinsonian Disorders - genetics
Tremor - diagnosis
Tremor - drug therapy
Tremor - epidemiology
Tremor - genetics
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Zusammenfassung:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome. There is reason to believe that too few individuals in Norway undergo testing for this condition.
ISSN:0807-7096
DOI:10.4045/tidsskr.17.0317