Pi, B.K.; Chung, Y.H.; Kim, H.S.; Nam, S.H.; Lee, A.J.; Nam, D.E.; Park, H.J.; Kim, S.B.; Chung, K.W.; Choi, B.-O. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity. Int. J. Mol. Sci.2024, 25, 6378.
Pi, B.K.; Chung, Y.H.; Kim, H.S.; Nam, S.H.; Lee, A.J.; Nam, D.E.; Park, H.J.; Kim, S.B.; Chung, K.W.; Choi, B.-O. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity. Int. J. Mol. Sci. 2024, 25, 6378.
Pi, B.K.; Chung, Y.H.; Kim, H.S.; Nam, S.H.; Lee, A.J.; Nam, D.E.; Park, H.J.; Kim, S.B.; Chung, K.W.; Choi, B.-O. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity. Int. J. Mol. Sci.2024, 25, 6378.
Pi, B.K.; Chung, Y.H.; Kim, H.S.; Nam, S.H.; Lee, A.J.; Nam, D.E.; Park, H.J.; Kim, S.B.; Chung, K.W.; Choi, B.-O. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity. Int. J. Mol. Sci. 2024, 25, 6378.
Abstract
Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity. As a result, eight pathogenic SACS mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with SACS mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was done in four patients, and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without SACS mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with SACS mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with SACS mutations and broaden the clinical spectrum. We suggest screening for SACS in recessive CMT patients with complex phenotypes of ataxia and spasticity.
Biology and Life Sciences, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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