6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

diabetes duration, BMI, HbA1c and use of other diabetes therapies.Medical record data over the previous 20 years were analysed to assess the duration and dose of current or prior metformin therapy in both groups.Results Mean tibial nerve cross-sectional area (CSA) was improved in the metformin group (metformin 14.1 0.7 mm 2 , non-metformin 16.2 0.9mm 2 , p=0.038) and this was accompanied by reduction in neuropathy severity, p=0.021).Nerve excitability studies demonstrated improvements in axonal function in the metformin group and mathematical modelling of excitability data demonstrated that these improvements were mediated by changes in nodal Na + and K + conductances.Conclusion Metformin treatment is associated with improved nerve structure and improvements in clinical and neurophysiological measures.Treatment with metformin may be neuroprotective in DPN.

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Published
2024-08-01
DOI
https://doi.org/10.1136/bmjno-2024-anzan.6
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

Michel Tchan, Karl Ng, Mike Hayes, Laura Ivete Rudaks et al.
Genetic Neurodegenerative Diseases
article

6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing

Michel Tchan, Karl Ng, Mike Hayes, Laura Ivete Rudaks, Igor Stevanovski, Marina Kennerson, Sanjog R. Chintalaphani, Lisa Worgan, Kishore R. Kumar, Ira W. Deveson, Pak Leng Cheong, Dennis Yeow, Kate Ahmad, Andre LM Reis, Victor SC Fung
article en

Abstract

diabetes duration, BMI, HbA1c and use of other diabetes therapies.Medical record data over the previous 20 years were analysed to assess the duration and dose of current or prior metformin therapy in both groups.Results Mean tibial nerve cross-sectional area (CSA) was improved in the metformin group (metformin 14.1 0.7 mm 2 , non-metformin 16.2 0.9mm 2 , p=0.038) and this was accompanied by reduction in neuropathy severity, p=0.021).Nerve excitability studies demonstrated improvements in axonal function in the metformin group and mathematical modelling of excitability data demonstrated that these improvements were mediated by changes in nodal Na + and K + conductances.Conclusion Metformin treatment is associated with improved nerve structure and improvements in clinical and neurophysiological measures.Treatment with metformin may be neuroprotective in DPN.

The University of Sydney (AU), Garvan Institute of Medical Research (AU), Royal Prince Alfred Hospital (AU), Royal North Shore Hospital (AU), Concord Repatriation General Hospital (AU), Westmead Hospital (AU), UNSW Sydney (AU), Prince of Wales Hospital (AU), Sydney Local Health District (AU), Murdoch Children's Research Institute (AU), Anzac Research Institute (AU), Neuroscience Research Australia (AU)
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