A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome.
Neurocase
; 24(3): 140-144, 2018 06.
Article
en En
| MEDLINE
| ID: mdl-29969053
ABSTRACT
Speech apraxia is a disorder of speech motor planning/programming leading to slow rate, articulatory distortion, and distorted sound substitutions. We describe the clinical profile evolution of a patient presenting with slowly progressive isolated speech apraxia that eventually led to the diagnosis of corticobasal syndrome (CBS), supporting the evidence that this rare speech disorder can be the first presentation of CBS. Moreover, we found a novel variant in MAPT gene, which is hypothesized to be disease-causing mutation. These results underscore the importance of genetic analysis - particularly in selected atypical cases - for in vivo understanding of possible pathophysiological disease process.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Apraxias
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Trastornos del Habla
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Proteínas tau
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Trastornos Parkinsonianos
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Tauopatías
Tipo de estudio:
Etiology_studies
Límite:
Aged
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Humans
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Male
Idioma:
En
Año:
2018
Tipo del documento:
Article