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Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of .
Int J Mol Sci
November 2024
Institute of Human Genetics, Department of Medicine, Justus Liebig University Giessen, 35390 Giessen, Germany.
Pathogenic variants in , which encodes the voltage-gated potassium channel Kv3.3, are associated with spinocerebellar ataxia type 13. SCA13 is a neurodegenerative disease characterized by ataxia, dysarthria and oculomotor dysfunction, often in combination with other signs and symptoms such as cognitive impairment.
View Article and Find Full Text PDFProgressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.
Neurol Genet
December 2024
From the Neurology (A.M.B., L.M.J., R.G., J.M.M.-T., K.A.J., H.B.); Speech Pathology (G.M., J.S., J.R.D., H.C., R.L.U.); Psychology (M.M.M.); and Radiology (J.L.W.), Mayo Clinic, Rochester, MN.
Objectives: To describe a case of spinocerebellar ataxia presenting with progressive apraxia of speech (AOS).
Methods: A 54-year-old man with progressive speech changes was seen clinically and referred to our observational research program on degenerative speech and language disorders. He underwent detailed speech-language and neurologic assessments and multimodal neuroimaging studies.
Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of autosomal dominant ataxia in the European population. We present the case of a 62-year-old Portuguese patient who developed a slowly progressive gait impairment associated with wide-base ataxic gait, dysarthria, left upper limb dysmetria, and dysdiadochokinesia. This pure cerebellar phenotype had an episodic worsening induced by intense physical activity and alcohol intake.
View Article and Find Full Text PDFA Novel Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.
Genes (Basel)
September 2024
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity and lower limb weakness. Spastic paraplegia 75 (SPG75) results from a mutation in the gene that encodes myelin associated glycoprotein (MAG). Only a limited number of variants associated with SPG75 in families of European, Middle Eastern, North African, Turkish and Palestinian ancestry have been documented so far.
View Article and Find Full Text PDFPurpose: The goal of this study was to determine the relationship between the perceptual measure of speech naturalness and objective measures of pitch, loudness, and rate control as a potential tool for assessment of ataxic dysarthria.
Method: Twenty-seven participants with ataxia and 29 age- and sex-matched control participants completed the pitch glide and loudness step tasks drawn from the Frenchay Dysarthria Assessment-Second Edition (FDA-2) in addition to speech diadochokinetic (DDK) tasks. First, group differences were compared for pitch variability in the pitch glide task, loudness variability in the loudness step task, and syllable duration and speech rate in the DDK task.
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