EC Clinical and Medical Case Reports

Objective: Dysarthria is a common neurological symptom in hereditary spastic paraplegia (HSP) of SPG35 gene mutation, but it is poorly investigated. The present study aimed to analyze it in one of the few clinical cases of SPG 35 patients worldwide.

Method: The speech/voice of a 44-year-old dysarthric Cypriot patient diagnosed with SPG35 gene mutation was compared to the speech/voice of a healthy control pair matched to age, gender, and education. The experimental procedure involved a neurological examination and speech assessment, including instrumental speech analysis (sustained phonation, Greek passage reading, and speech diadochokinesis). The speech tasks were digitally recorded in a quiet clinical examination room and analyzed using speech acoustics and electroglottography.

Results: The speech diadochokinetic rate of the SPG35 patient showed 6-9 times longer (slower production) mean durations of the syllables /pa/, /ta/, and /ka/, 7-13 times longer mean durations of the silences before each syllable, and 4-6 times longer mean vowel durations of each syllable. The same pattern was found in /pataka/ (4 times slower mean production as compared to the healthy control participant).

Conclusion: Further research is needed to quantify dysarthria in other HSPs, delve into its genetics, and measure the effectiveness of speech therapy.

 Keywords: Neurodegenerative Diseases; Genetics; SPG35 Gene Mutation; Speech, Dysarthria; Acoustic Analysis

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