Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study DOI Creative Commons
Naoum P. Issa, Serdar Onur Aydın,

Shail Bhatnagar

et al.

The Cerebellum, Journal Year: 2023, Volume and Issue: 23(2), P. 601 - 608

Published: July 10, 2023

Spinocerebellar ataxias (SCAs) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. While there is variable involvement of corticospinal tracts (CST), dorsal root ganglia, motor neurons in SCA3, SCA6 characterized by a pure, late-onset ataxia. Abnormal intermuscular coherence beta-gamma frequency range (IMCβγ) implies lack integrity CST or afferent input from acting muscles. We test hypothesis that IMCβγ has potential to be biomarker disease activity SCA3 but not SCA6. Intermuscular between biceps brachii brachioradialis muscles was measured surface EMG waveforms (N = 16) 20) patients neurotypical subjects 23). IMC peak frequencies were present β SCA γ subjects. The difference amplitudes ranges significant when comparing control (p < 0.01) patients. amplitude smaller compared 0.05), different metrics can differentiate normal controls.

Language: Английский

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome DOI Creative Commons
Sarah A. Eisenstein,

Raveena Boodram,

Courtney L. Sutphen

et al.

Frontiers in Neuroscience, Journal Year: 2022, Volume and Issue: 16

Published: April 12, 2022

Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression neurodegeneration has not yet been found, accurate tracking neurodegenerative process over time requires assessment costly and time-consuming clinical measures brain magnetic resonance imaging (MRI). A blood-based measure neurodegeneration, neurofilament light chain (NfL), relatively inexpensive can be repeatedly measured at remote sites, standardized, individuals MRI contraindications. To determine whether NfL levels may use monitoring reflect activity syndrome, plasma were compared between children young adults (n = 38) controls composed their siblings parents 35) related to severity selected region volumes within group. higher group [median (interquartile range) 11.3 (7.8-13.9) pg/mL] relative [5.6 (4.5-7.4) pg/mL]. Within group, worse visual acuity, color vision smell identification, smaller brainstem thalamic volumes, faster annual rate decrease volume time. Our findings suggest that powerful tool non-invasively assess underlying processes children, adolescents syndrome.

Language: Английский

Citations

6
Therapeutic Strategies for Spinocerebellar Ataxia Type 1 DOI Creative Commons

Laurie M.C. Kerkhof,

Bart P.C. van de Warrenburg, Willeke M. C. van Roon‐Mom

et al.

Biomolecules, Journal Year: 2023, Volume and Issue: 13(5), P. 788 - 788

Published: May 2, 2023

: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that affects one or two individuals per 100,000. The disease caused by extended CAG repeat in exon 8 of the ATXN1 gene and characterized mostly a profound loss cerebellar Purkinje cells, leading to disturbances coordination, balance, gait. At present, no curative treatment available for SCA1. However, increasing knowledge on cellular molecular mechanisms SCA1 has led way towards several therapeutic strategies can potentially slow progression. therapeutics be classified as genetic, pharmacological, cell replacement therapies. These different target either (mutant) RNA ataxin-1 protein, pathways play important role downstream which help restore cells are lost due pathology. In this review, we will provide summary currently being investigated

Language: Английский

Citations

3
Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia DOI
Sarah Milne, Melissa Roberts,

Hannah L. Ross

et al.

Archives of Physical Medicine and Rehabilitation, Journal Year: 2023, Volume and Issue: 104(10), P. 1646 - 1651

Published: June 1, 2023

Language: Английский

Citations

3
Intermuscular coherence in spinocerebellar ataxias 3 and 6: a preliminary study DOI Creative Commons
Naoum P. Issa, Serdar Onur Aydın,

Shail Bhatnagar

et al.

Research Square (Research Square), Journal Year: 2023, Volume and Issue: unknown

Published: April 17, 2023

Abstract Objective : Spinocerebellar ataxias (SCAs) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. While there is variable involvement of corticospinal tracts (CST), dorsal root ganglia, motor neurons in SCA3, SCA6 characterized by a pure, late-onset ataxia. Abnormal intermuscular coherence beta-gamma frequency range (IMCbg) implies lack integrity CST or afferent input from acting muscles. We test hypothesis that IMCbg has potential to be biomarker disease activity SCA3 but not SCA6. Methods: Intermuscular between biceps brachioradialis muscles was measured surface EMG waveforms (N=16) (N=20) patients, neurotypical subjects (N=23). Results: IMC peak frequencies were present b SCA patients g subjects. The difference amplitudes ranges significant when comparing control (p < 0.01) = patients. amplitude smaller compared (p<0.05), different Conclusion/significance: metrics can differentiate normal controls.

Language: Английский

Citations

2
Intermuscular Coherence in Spinocerebellar Ataxias 3 and 6: a Preliminary Study DOI Creative Commons
Naoum P. Issa, Serdar Onur Aydın,

Shail Bhatnagar

et al.

The Cerebellum, Journal Year: 2023, Volume and Issue: 23(2), P. 601 - 608

Published: July 10, 2023

Spinocerebellar ataxias (SCAs) are familial neurodegenerative diseases involving the cerebellum and spinocerebellar tracts. While there is variable involvement of corticospinal tracts (CST), dorsal root ganglia, motor neurons in SCA3, SCA6 characterized by a pure, late-onset ataxia. Abnormal intermuscular coherence beta-gamma frequency range (IMCβγ) implies lack integrity CST or afferent input from acting muscles. We test hypothesis that IMCβγ has potential to be biomarker disease activity SCA3 but not SCA6. Intermuscular between biceps brachii brachioradialis muscles was measured surface EMG waveforms (N = 16) 20) patients neurotypical subjects 23). IMC peak frequencies were present β SCA γ subjects. The difference amplitudes ranges significant when comparing control (p < 0.01) patients. amplitude smaller compared 0.05), different metrics can differentiate normal controls.

Language: Английский

Citations

2