Cerebellar Involvement in DYT-THAP1 Dystonia.
Cerebellum
; 18(5): 969-971, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-31367947
ABSTRACT
DYT-THAP1 dystonia is known to present a variety of clinical symptoms. To the best of our knowledge, this is the first case with DYT-THAP 1 dystonia and clinical signs of cerebellar involvement studied with transcranial magnetic stimulation in vivo. We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. To study cerebellar involvement in our patient, we used a TMS protocol called cerebellar inhibition (CBI). The lack of CBI in our patient strongly suggests cerebellar involvement. According to our findings, cerebellar syndrome may be part of the phenotypical spectrum of DYT-THAP1 mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cerebelo
/
Proteínas de Ligação a DNA
/
Distonia
/
Proteínas Reguladoras de Apoptose
/
Mutação
Tipo de estudo:
Guideline
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Cerebellum
Assunto da revista:
CEREBRO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Alemanha