A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome

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...

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Bibliographic Details
Published in:Neurocase 2018-06, Vol.24 (3), p.140-144
Main Authors: Mazzon, Giulia, Menichelli, Alina, Fabretto, Antonella, Cattaruzza, Tatiana, Manganotti, Paolo
Format: Article
Language:English
Subjects:
Aged
Apraxia
Apraxias - diagnosis
Apraxias - etiology
Apraxias - genetics
Brain diseases
Cognitive ability
corticobasal syndrome
Genetic analysis
Humans
language disorders
Male
MAPT mutation
Parkinsonian Disorders - complications
Parkinsonian Disorders - diagnosis
Parkinsonian Disorders - genetics
parkinsonism
Speech
Speech apraxia
Speech Disorders - diagnosis
Speech Disorders - etiology
Speech Disorders - genetics
tau Proteins - genetics
tauopathies
Tauopathies - complications
Tauopathies - diagnosis
Tauopathies - genetics
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Summary: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.
ISSN:1355-4794
1465-3656
1362-4970
DOI:10.1080/13554794.2018.1492729