好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Clinical and Autonomic Profiles of CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome)
Movement Disorders
S21 - Movement Disorders: Clinical Characteristics and Epidemiology of Movement Disorders (5:06 PM-5:18 PM)
009
CANVAS is associated with autonomic dysfunction, however pattern of autonomic failure on neurophysiologic testing is limited.   
To report the clinical characteristics and autonomic profiles of a single-center experience with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS).
Retrospective chart review of all probable CANVAS cases at Mayo Clinic from 2010-2024. Cases with clinical features of CANVAS were included. Composite autonomic severity score (CASS) was calculated based on results from autonomic reflex screen. 

There were 28 cases (16 male) with mean age-at-onset of 52 years (range 15-68) and mean age-at-diagnosis 67 (range 55-82).  Genetic evaluation for RFC1 repeat expansion (n=14) was positive in 13 and negative in 1.    

Sensory neuropathy/neuronopathy and cerebellar ataxia were present in all 28 cases with mean SARA score at initial visit of 14 (n=12) (range 4.5 to 23). MRI brain (n=27) showed cerebellar atrophy in 20. Bilateral vestibular hypofunction was present in 25/28 (89%). Chronic cough was present in 17/28 (61%). The most common initial symptoms included gait instability (n=17) and sensory symptoms (n=5). 

Autonomic reflex screen was abnormal in 16/18 (89%) with median CASS of 3, (range 0-8). Median subscores showed sudomotor was least affected: cardiovagal (1), adrenergic (1.5), and sudomotor (0.5).  Thermoregulatory sweat test (TST) was abnormal in 13/14 (93%). The most common distributions were patchy (n=7) and global (n=6). 

In 13 cases with biallelic RFC1 repeat expansion, initial symptom included gait instability in 7 and sensory symptoms in 2. Autonomic testing was available in 9 cases with median CASS of 4 (range 1-7). TST was abnormal in 6/7 (86%). 

  
Autonomic failure was present in the majority of cases of CANVAS with autonomic function testing and tended to affect multiple domains, yet remained mild in severity. Genetically confirmed cases of RFC1-associated disorder demonstrated similar patterns of autonomic dysfunction to the entire cohort. 
Authors/Disclosures
Christina Alexandres, MD (Mayo Clinic)
PRESENTER 		Dr. Alexandres has nothing to disclose.
Anhar Hassan, MBBCH, FRACP, FRCPI, FAAN (Beaumont Hospital) The institution of Dr. Hassan has received research support from Intrabio . Dr. Hassan has received personal compensation in the range of $500-$4,999 for serving as a Invited speaker with Korean Movement Disorders Society.
Elizabeth A. Coon, MD, FAAN (Mayo Clinic) Dr. Coon has nothing to disclose.
Ralitza H. Gavrilova, MD (Mayo Clinic) Dr. Gavrilova has nothing to disclose.
Lauren Jackson, MD (Mayo Clinic) Dr. Jackson has nothing to disclose.