Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
Neurogenetics
; 18(3): 175-178, 2017 Jul.
Article
en En
| MEDLINE
| ID: mdl-28664294
ABSTRACT
Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo.We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trastornos Parkinsonianos
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Distonía
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Presenilina-1
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Disfunción Cognitiva
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Mutación
Tipo de estudio:
Etiology_studies
Límite:
Female
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Humans
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Male
Idioma:
En
Año:
2017
Tipo del documento:
Article