Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.
J Neurol Sci
; 225(1-2): 129-33, 2004 Oct 15.
Article
en En
| MEDLINE
| ID: mdl-15465096
We describe a 24-year-old Japanese woman with pantothenate kinase-associated neurodegeneration (PKAN) whose only early symptom was postural tremor in the right hand at around 18 years of age, leading to a diagnosis of essential tremor at age 21. Although she was treated with arotinolol hydrochloride and clonazepam, she gradually progressed to extrapyramidal and pyramidal signs several years later. T2-weighted magnetic resonance images (MRI) showed bilaterally marked hypointensity with a central region of hyperintensity in the globus pallidus, or the so-called "eye-of-the-tiger" sign. Six years have passed since the initial appearance of postural tremor, whereas she has not shown choreoathetosis, retinitis pigmentosa, optic atrophy, or seizure. Direct sequencing of the patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents. Although the heterozygous form of this mutation has already been reported among several families, this is the first report of the homozygous mutation in a patient with atypical-type PKAN. This detailed description of the clinical features of a Japanese patient with PKAN arising from homozygous N245S mutations in PANK2 would be useful for elucidating the pathogenesis of PKAN.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Temblor
/
Fosfotransferasas (Aceptor de Grupo Alcohol)
/
Enfermedades Neurodegenerativas
/
Homocigoto
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
J Neurol Sci
Año:
2004
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Países Bajos