A Novel TFG Mutation in a Korean Family with α‐Synucleinopathy and Amyotrophic Lateral Sclerosis

2021 ◽  
Author(s):  
Dallah Yoo ◽  
Wonjae Lee ◽  
Seung‐Jae Lee ◽  
Jung‐Joon Sung ◽  
Gye Sun Jeon ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Korean Family ◽  
Lateral Sclerosis

A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis

2003 ◽  
Vol 206 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Nam-Hee Kim ◽  
Hyun-Jung Kim ◽  
Manho Kim ◽  
Kwang-Woo Lee
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutation ◽  
Sod1 Gene ◽  
Korean Family ◽  
Lateral Sclerosis

Automated Acoustic Analysis of Oral Diadochokinesis to Assess Bulbar Motor Involvement in Amyotrophic Lateral Sclerosis

2020 ◽  
Vol 63 (1) ◽  
pp. 59-73 ◽  
Author(s):  
Panying Rong
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Acoustic Analysis ◽  
Speaking Rate ◽  
Disease Stage ◽  
Healthy Controls ◽  
Tongue Movement ◽  
Major Barrier ◽  
Syllable Repetition ◽  
Oral Diadochokinesis ◽  
Lateral Sclerosis

Purpose The purpose of this article was to validate a novel acoustic analysis of oral diadochokinesis (DDK) in assessing bulbar motor involvement in amyotrophic lateral sclerosis (ALS). Method An automated acoustic DDK analysis was developed, which filtered out the voice features and extracted the envelope of the acoustic waveform reflecting the temporal pattern of syllable repetitions during an oral DDK task (i.e., repetitions of /tɑ/ at the maximum rate on 1 breath). Cycle-to-cycle temporal variability (cTV) of envelope fluctuations and syllable repetition rate (sylRate) were derived from the envelope and validated against 2 kinematic measures, which are tongue movement jitter (movJitter) and alternating tongue movement rate (AMR) during the DDK task, in 16 individuals with bulbar ALS and 18 healthy controls. After the validation, cTV, sylRate, movJitter, and AMR, along with an established clinical speech measure, that is, speaking rate (SR), were compared in their ability to (a) differentiate individuals with ALS from healthy controls and (b) detect early-stage bulbar declines in ALS. Results cTV and sylRate were significantly correlated with movJitter and AMR, respectively, across individuals with ALS and healthy controls, confirming the validity of the acoustic DDK analysis in extracting the temporal DDK pattern. Among all the acoustic and kinematic DDK measures, cTV showed the highest diagnostic accuracy (i.e., 0.87) with 80% sensitivity and 94% specificity in differentiating individuals with ALS from healthy controls, which outperformed the SR measure. Moreover, cTV showed a large increase during the early disease stage, which preceded the decline of SR. Conclusions This study provided preliminary validation of a novel automated acoustic DDK analysis in extracting a useful measure, namely, cTV, for early detection of bulbar ALS. This analysis overcame a major barrier in the existing acoustic DDK analysis, which is continuous voicing between syllables that interferes with syllable structures. This approach has potential clinical applications as a novel bulbar assessment.

Amyotrophic Lateral Sclerosis Assessment Questionnaire-5--Turkish Version

2019 ◽  
Author(s):  
Naile Alankaya ◽  
Zeliha Tülek ◽  
Aylin Özakgül ◽  
Alper Kaya ◽  
Aynur Dik
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Turkish Version ◽  
Assessment Questionnaire ◽  
Lateral Sclerosis

Amyotrophic Lateral Sclerosis Assessment Questionnaire-40--Turkish Version

2019 ◽  
Author(s):  
Naile Alankaya ◽  
Zeliha Tülek ◽  
Aylin Özakgül ◽  
Alper Kaya ◽  
Aynur Dik
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Turkish Version ◽  
Assessment Questionnaire ◽  
Lateral Sclerosis
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