ooking beyond the central nervous system in SCA3: nerve and muscle ultrasound as potential imaging markers to quantify and monitor peripheral nervous system degeneratio

Recruiting

Conditions: Spinocerebellar ataxia type 3
10028037

Registration Number: NL-OMON53256

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

SCA3:
(1) Adults with a (2) genetically confirmed SCA3 mutation spanning the disease
spectrum (i.e., from preclinical mutation carriers to moderate/severe ataxia),
and (3) able and willing to sign the informed consent.

Healthy controls:
Age- and sex-matched healthy controls (without a medical history of
neurological disorders), able and willing to sign the informed consent.

Exclusion Criteria

Other diseases or conditions associated with neuropathy (e.g., diabetes
mellitus, previous exposure to cytostatic drugs, alcohol abuse, inflammatory
neuropathy, hereditary neuropathy, etc.) and myopathy (e.g.,
inflammatory/immune-mediated myopathy, metabolic myopathy, toxic myopathy,
muscular dystrophy, myotonia, etc.).

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Nerve ultrasound:<br /><br>- Cross-sectional areas of the median, ulnar, superficial radial, tibial, and<br /><br>sural nerves.<br /><br><br /><br>Muscle ultrasound:<br /><br>- Muscle volume, fasciculations, and echo intensity of the geniohyoid,<br /><br>digastric, masseter, sternocleidomastoid, trapezius, biceps brachii, flexor<br /><br>carpi radialis, first dorsal interosseus, rectus abdominis, rectus femoris,<br /><br>tibialis anterior, and medial gastrocnemius muscles.</p><br>

Secondary Outcome Measures