Progressive encephalomyelitis with rigidity and myoclonus: a syndrome with diverse clinical features and antibody responses.
Eur Neurol
; 69(5): 257-62, 2013.
Article
in 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autoantibodies
/
Encephalomyelitis
/
Muscle Rigidity
/
Myoclonus
Type of study:
Prognostic_studies
Limits:
Aged
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Eur Neurol
Year:
2013
Document type:
Article
Affiliation country: