Homozygous SCA8 presenting as severe axonal neuropathy without overt cerebellar involvement.

Neurol SciNov 3, 2026 (epub)
Case ReportNeurologyMedical GeneticsOpen access

Chunyan Shu, Lixi Li, Zucai Xu et al.

✦ AI-curated · Sources linked

Case in brief

A 35-year-old man with progressive limb weakness beginning at age 15 had severe proximal muscle atrophy and absent deep tendon reflexes, without overt cerebellar signs. Nerve conduction studies showed severe sensorimotor axonal polyneuropathy, while brain MRI showed no cerebellar atrophy. Genetic testing identified homozygous repeat expansions of 99 and 110 repeats in ATXN8OS/ATXN8, establishing SCA8. The reported presentation was predominantly severe axonal neuropathy without clinical or MRI evidence of cerebellar involvement.

What made this case unusual

The homozygous SCA8 presentation was dominated by severe sensorimotor axonal neuropathy, without overt cerebellar signs or cerebellar atrophy.

Diagnostic / clinical pearl

SCA8 may present predominantly as hereditary axonal neuropathy; its consideration need not depend on overt cerebellar signs or MRI evidence of cerebellar atrophy.

Source

PubMed · PMID 42975746Free full text on PubMed Central

Published in Neurol Sci. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Neurology

Clinical ResearchPreventive Medicine / Public Health

2025 National Guidelines on the Mediterranean Diet: Executive Summary of a Joint Report by Italian Scientific Societies and the National Institute of Health Task Force on Clinical Practice Guidelines.

This systematic review and practice guideline, developed by a multidisciplinary panel using NUTRIGRADE, assessed Mediterranean diet evidence across nine health domains and one economic domain.

Nutr RevNov 12, 2026Read summary
Clinical ResearchOrthopedic Surgery

Prevention of Venous Thromboembolism after Total Hip or Knee Replacement.

This multicenter randomized comparative-effectiveness noninferiority trial compared 30 days of aspirin, warfarin, or rivaroxaban for VTE prophylaxis after elective total hip or knee arthroplasty.

N Engl J MedNov 12, 2026Read summary
Clinical ResearchAnesthesiology

Effect of discontinuing antihypertensives on perioperative hypotension in older patients before non-cardiac surgery: multicentre, randomised, double blind, controlled trial.

This multicentre, randomised, double blind, placebo controlled trial assessed whether withholding ACE inhibitors or ARBs on the morning of surgery reduces perioperative hypotension in older adults undergoing non-cardiac…

BMJNov 11, 2026Read summary

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.