Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.
Cerebellum Ataxias
; 7: 7, 2020.
Article
in En
| MEDLINE
| ID: mdl-32587707
ABSTRACT
BACKGROUND:
Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in several ataxia cohorts screened to date. CASE PRESENTATIONS We found five cases of SCA23 in two families (mean age at onset 37.8 ± 5.5 years; mean age at examination 64.2 ± 12.3 years) with a novel PDYN variant (c.644G > Ap.R215H). We identified marked heterogeneity in the clinical features in Family 1 the proband showed clinical and neuroimaging features suggestive of multiple system atrophy with predominant parkinsonism (MSA-P). Conversely, the proband's mother with the PDYN p.R215H variant had no subjective symptoms; she had not come to medical attention before our survey, although she showed apparent cerebellar atrophy on brain magnetic resonance imaging (MRI). The other two patients in Family 1 and a patient in Family 2 showed slowly progressive cerebellar ataxia.CONCLUSIONS:
We here report two Japanese families with SCA23, one of which showed considerable phenotypic variation in affected members. Our findings support that SCA23 can phenotypically overlap with MSA.
Full text:
1
Database:
MEDLINE
Type of study:
Prognostic_studies
Language:
En
Year:
2020
Type:
Article