Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
Eur Neurol
; 69(5): 257-62, 2013.
Article
em En
| MEDLINE
| ID: mdl-23429048
ABSTRACT
BACKGROUND/AIMS:
To better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes.METHODS:
The clinical features and antibody status of PERM patients were investigated using immunoblots, cell-based assays, RIA, protein macroarray and ELISA.RESULTS:
Two patients with supratentorial involvement showed abnormal PET or EEG findings. One patient was discovered to have renal cell carcinoma, and protein macroarray revealed Ma3-antibodies. Another patient with leucine-rich, glioma-inactivated 1 (LGI1) and glutamic acid decarboxylase (GAD) antibodies showed a good response to immunotherapy.CONCLUSION:
The heterogeneity of the immunological features suggests that PERM is caused by diverse pathogenic mechanisms. Seropositivity to well-characterized neuronal cell surface antigens might indicate a good treatment response.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoanticorpos
/
Encefalomielite
/
Rigidez Muscular
/
Mioclonia
Tipo de estudo:
Prognostic_studies
Limite:
Aged
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article