Spinocerebellar ataxia type 3
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
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
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.).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Nerve ultrasound: - Cross-sectional areas of the median, ulnar, superficial radial, tibial, and sural nerves. Muscle ultrasound: - Muscle volume, fasciculations, and echo intensity of the geniohyoid, digastric, masseter, sternocleidomastoid, trapezius, biceps brachii, flexor carpi radialis, first dorsal interosseus, rectus abdominis, rectus femoris, tibialis anterior, and medial gastrocnemius muscles. | — |
Secondary
| Measure | Time frame |
|---|---|
| Nerve conduction studies: - Sensory nerve action potential (SNAP) amplitudes and conduction velocities of the median, ulnar, superficial radial, and sural nerves. - Compound muscle action potential (CMAP) ampliitudes, motor nerve conduction velocities, and distal motor latencies of the median, ulnar, and tibial nerves. Plasma neurofilament light chain concentration. Clinical measures / questionnaires: Scale for the Assessment and Rating of Ataxia (SARA), SCA Functional Index (SCAFI), Total Neuropathy Score clinical version, muscle cramp scale (MCS), Cramps Disability Scale (CDS), Friedreich Ataxia Rating Scale Activities of Daily Living (FARS ADL), cerebellar cognitive affective syndrome (CCAS) scale, EQ-5D-5L, Patient Health Questionnaire-9 (PHQ-9), Fatigue Severity Scale (FSS), International Restless Legs Scale (IRLS), Pittsburgh Sleep Quality Index (PSQI), Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia), Personal Questionnaire (PQ), Goal Attainment Scale (GAS), Utrecht Coping List (UCL-P), Utrecht Proactive Coping Competention List (UPCC) and Neuropathic Pain Scale (NPS). | — |
Countries
Netherlands
Outcome results
None listed