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. 2024 May;271(5):2494-2502.
doi: 10.1007/s00415-023-12159-2. Epub 2024 Jan 23.

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Katharina Kneer  1   2 , Stephanie Straub  3   4 , Julia Wittlinger  3   4 , Jan-Hendrik Stahl  3   4 , Natalie Winter  3   4 , Dagmar Timmann  5 , Ludger Schöls  4   6   7 , Matthis Synofzik  4   6   7 , Friedemann Bender #  6   5   7   8 , Alexander Grimm #  3   4
Affiliations

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Katharina Kneer et al. J Neurol. 2024 May.

Abstract

Background: To specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution nerve ultrasound and nerve conduction studies.

Methods: We assessed a cohort of 11 ARSACS patients with standardized nerve conduction studies and high-resolution ultrasound of peripheral nerves and compared nerve ultrasound findings to a healthy control group matched for age, sex, size and weight.

Results: Mean age of patients was 39.0 (± 14.1) years and disease duration at assessment 30.6 (± 12.5) years. All patients presented with a spasticity, ataxia and peripheral neuropathy. Neuropathy appeared to be primarily demyelinating in 9/11 cases and was not classifiable in 2/11 cases due to not evocable potentials. Nerve ultrasound revealed a normal ultrasound pattern sum score (UPSS) in each ARSACS patient and no significant nerve enlargement compared to the control group.

Conclusions: Peripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion.

Keywords: ARSACS; Ataxia; Neuropathy; UPSS; Ultrasound.

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Conflict of interest statement

All authors report no conflicts of interest in connection with this article.

Figures

Fig. 1
Fig. 1
Nerve ultrasound of the right ulnar nerve measured at the upper arm
See this image and copyright information in PMC

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