Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome.
J Neurol Sci
; 293(1-2): 116-8, 2010 Jun 15.
Article
em En
| MEDLINE
| ID: mdl-20403608
ABSTRACT
We report the case of a 29 year old woman with a complex movement disorder syndrome due to the combination of coexisting pathological triplet repeat expansions of huntingtin and ATXN8 genes. The disease course was characterized by mental disturbances including cognitive decline and changes in personality starting at the age of 12 years, followed by twisting motions, intentional tremor and gait ataxia. Later Parkinsonian symptoms of micrographia, bradykinesia, muscle rigidity and mental decline became dominant. Brain MRI showed hypoplasia of the nucleus caudatus and generalized atrophy; MR spectroscopy revealed a decrease of all typical metabolites except for an increased level of lactate and acetate. Therapeutic trials with pramipexole, ropinirole and tetrabenazine showed no benefit, while levetiracetam caused agitation and hallucinations. We discuss phenotype-genotype correlation and the rule of triplet repeat expansions of gene ATXN8.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Doenças Neurodegenerativas
/
Expansão das Repetições de Trinucleotídeos
/
Proteínas do Tecido Nervoso
Limite:
Adult
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Female
/
Humans
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Hungria