Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Spinocerebellar Ataxia Type 8

System/ConcernEvaluationComment
Neurologic Neurologist: assess for cerebellar motor dysfunction (gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades & smooth pursuit).Use standardized scale to establish baseline for ataxia (SARA, ICARS, or BARS). 1
UMN dysfunction (spasticity, Babinski signs, hypereflexia)Clinical neurologic eval
Refer to neuromuscular clinic (OT/PT / rehab specialist).To assess gross motor & fine motor skills, ambulation, & need for adaptive devices & PT
Dysarthria Speech/language eval
Dysphagia Swallow evalSwallow imaging, swallowing rehab
Ocular
involvement 		Complete eye examAssess for nystagmus, saccades & smooth ocular pursuit, gaze limitation
Neuroimaging Brain MRI or CTIf not performed at initial eval
Cognitive/
Psychiatric 		Assess for cognitive dysfunction assoc w/cerebellar cognitive & affective syndrome (executive function, language processing, visuospatial/visuoconstructional skills, emotion regulation).Consider use of:
  • CCAS scale 2 to evaluate cognitive & emotional involvement;
  • Psychiatrist, psychologist, neuropsychologist if needed.
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of SCA8 to facilitate medical & personal decision making
Family support
& resources 		Assess:
  • Knowledge & availability of local community support or online resources;
  • Need for social work involvement for parental support;
  • Need for home nursing referral.

BARS = Brief Ataxia Rating Scale; CCAS = cerebellar cognitive affective syndrome; ICARS = International Co-operative Ataxia Rating Scale; OT = occupational therapy; PT = physical therapy; SARA = Scale for the Assessment and Rating of Ataxia; UMN = upper motor neuron

1.
2.
3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Spinocerebellar Ataxia Type 8

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