Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology.
Acta Neuropathol Commun
; 7(1): 158, 2019 10 30.
Article
em En
| MEDLINE
| ID: mdl-31665069
ABSTRACT
Co-occurrence of multiple neuropathologic changes is a common phenomenon, most prominently seen in Alzheimer's disease (AD) and Parkinson's disease (PD), complicating clinical diagnosis and patient management. Reports of co-occurring pathological processes are emerging in the group of genetically defined repeat-associated non-AUG (RAN)-translation related diseases. Here we report a case of Fragile X-associated tremor-ataxia syndrome (FXTAS) with widespread and abundant nuclear inclusions of the RAN-translation related FMRpolyG-peptide. In addition, we describe prominent neuronal and glial tau pathology representing changes seen in progressive supranuclear palsy (PSP). The highest abundance of the respective pathological changes was seen in distinct brain regions indicating an incidental, rather than causal correlation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Tremor
/
Paralisia Supranuclear Progressiva
/
Encéfalo
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Risk_factors_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Acta Neuropathol Commun
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos