Abstract Details

Title Ataxia with Transglutaminase 6 Mutation (SCA35) Responding to Gluten-Free Diet: A Case Report

Topic Movement Disorders

Presentation(s) P1 - Poster Session 1 (5:30 PM-6:30 PM)

Poster/Presentation
Number 10-012

Objective To report a SCA35 patient with clinical improvement after adopting a gluten-free diet.

Background

Spinocerebellar ataxia type 35 (SCA35) is caused by mutations in transglutaminase 6 (TGM6). Autoantibodies to transglutaminase 6 (TG6) are associated with gluten ataxia, which may respond to a gluten-free diet.

Design/Methods A case report of a patient with SCA35 who improved with a gluten-free diet.

Results A 63-year-old right-handed Hispanic man developed progressive gait instability and slurred speech since age 40. He did not have cognitive decline, weakness, numbness, urinary or bowel incontinence. He also had no gastrointestinal symptoms or weight loss. Two of his four brothers and his mother were diagnosed with cerebellar ataxia. He had scanning speech, dysmetria, dysdiadochokinesia, and a wide-based gait. His strength and sensory examinations were unremarkable. Reflexes were brisk with down-going toes. His scale for the assessment and rating of ataxia (SARA) score was 21 at the initial visit. His magnetic resonance imaging showed marked cerebellar atrophy. He had normal anti-gliadin IgG/IgA and tissue transglutaminase IgA levels, and his small intestine biopsy result was normal. Whole exome sequencing revealed a single base-pair deletion in TGM6 (c.841), which results in a frameshift mutation, hence a truncated protein with only 289 amino acids (original length 706 amino acids). He tried riluzole, amantadine, and varenicline with no improvement. He started a gluten-free diet and his total SARA scores improved over the course of 18 months (SARA = 16). Significantly, the patient had been using a walker for years and was able to walk for 25 feet independently at month 18.

Conclusions Gluten-free diet improves symptoms in a SCA35 patient, suggesting SCA35 is potentially treatable with dietary modifications. The finding highlights that mechanisms of SCA35 and gluten ataxia converge at TG6-gluten interaction, providing a convincing intersection between genetic and autoimmune ataxias.

Authors/Disclosures
Chih-Chun Lin, MD, PhD (Columbia University Medical Center) PRESENTER	No disclosure on file
	No disclosure on file
Deepak K. Gupta, MBBS (University of Vermont Medical Center)	The institution of Dr. Gupta has received research support from Department of Defense.
Armin Alaedini, PhD (Columbia University)	No disclosure on file
	No disclosure on file
Sheng-Han Kuo, MD, FAAN (Columbia University)	Dr. Kuo has nothing to disclose.

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