101. A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome
- Author
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Paolo Manganotti, Tatiana Cattaruzza, Alina Menichelli, Antonella Fabretto, Giulia Mazzon, Mazzon, G., Menichelli, A., Fabretto, A., Cattaruzza, T., and Manganotti, P.
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Computer science ,Apraxias ,Slow rate ,tau Proteins ,Audiology ,Apraxia ,language disorder ,Speech Disorders ,03 medical and health sciences ,0302 clinical medicine ,Arts and Humanities (miscellaneous) ,Parkinsonian Disorders ,language disorders ,Distortion ,otorhinolaryngologic diseases ,medicine ,Humans ,Speech apraxia ,parkinsonism ,Aged ,tauopathies ,Parkinsonism ,corticobasal syndrome ,medicine.disease ,MAPT mutation ,030104 developmental biology ,Tauopathies ,Neurology (clinical) ,Speech motor ,030217 neurology & neurosurgery - 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.
- Published
- 2018