A-36 Case Study of Cerebellar Cognitive Affective Syndrome in 17-Year-Old Male with Cerebellar Arachnoid Cyst

Objective Arachnoid cysts are often congenital and asymptomatic, however, they may contribute to neurocognitive symptoms when there is a mass effect on the brain. This case study describes how a 17-year-old with cerebellar arachnoid cyst, and minimal mass effect exhibited symptoms of cerebellar cognitive affective syndrome (CCAS), which has been mostly associated with brain tumor or injury in prior research. Method In this case study, a posterior cerebellar arachnoid cyst (midline) was identified incidentally (via CT scan and later MRI) following a panic attack associated with face twitching, motor tremors, and clumsiness. Background history was collected via medical records, neurologist consultation, and parent and patient interview. Patient history was significant for speech, language, motor, and academic delays. Results Results of a comprehensive evaluation revealed deficits in perceptual reasoning, visual memory, fine motor functioning, attention, processing speed, executive functioning, social cognition and receptive/expressive language. Multi-informant ratings indicated anxiety. Reading, writing, and mathematics fell several years below grade- level in the context of low average intellectual ability (WAIS-IV: GAI = 88). Conclusions Many deficits in this neuropsychological profile are typically subsumed by the cerebellum or its associated networks, and overlap with CCAS. The findings of this case study warrant consideration by clinicians of functional impairment related to cerebellar cysts and expansion of our knowledge-base of cerebellar function.

The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients

Background The cerebellar cognitive affective syndrome scale (CCAS-S) was recently developed to detect specific neuropsychological deficits in patients with cerebellar diseases in an expedited manner. Objectives To evaluate the discriminative ability of the CCAS-S in an etiologically homogeneous cohort of spinocerebellar ataxia type 3 (SCA3) patients and to examine relationships between cognitive deficits and motor symptom severity. Methods The CCAS-S was administered to twenty mildly to moderately affected SCA3 patients and eighteen healthy controls matched for age, sex, and educational level. Disease severity was measured by the Scale for the Assessment and Rating of Ataxia (SARA), Inventory of Non-Ataxia Signs (INAS), 8 m walk test, nine-hole peg test (9HPT), and Patient Health Questionnaire-9 (PHQ-9). Results SCA3 patients had a lower total CCAS-S score (p < 0.001) and higher number of failed tests (p = 0.006) than healthy controls. Patients displayed impairments in semantic fluency, phonemic fluency, category switching, cube drawing, and affect regulation. Total CCAS-S score showed high discriminative ability (area under the curve [AUC]: 0.96) and was associated with disease duration, SARA score, walking speed, and dominant hand 9HPT performance. No correlations were observed with INAS count, repeat length, and PHQ-9 score. Discriminative capacity of the number of failed tests was moderate (AUC: 0.76). Conclusion Essentially all SCA3 patients exhibited some form of cognitive impairment. The CCAS-S differentiates SCA3 patients from healthy controls, detects neuropsychological deficits early in the disease course, and correlates with relevant ataxia severity measures.