Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome

Although previous studies of Gillespie syndrome have systematically reported a generalized
delay of cognitive development (mental retardation or oligophrenia), psychometric
data to substantiate this view are strikingly absent. In the present study two first degree
relatives (mother and daughter) with Gillespie syndrome were neuropsychologically investigated.
Aside from a marked asymmetry in the Wechsler-IQ profile, consisting of significantly
better results on the verbal [Verbal IQ (VIQ)] than on the nonverbal part
[Performance IQ (PIQ)] of the test, cognitive and behavioral assessments revealed a pattern
of abnormalities that closely resembles the ''cerebellar cognitive and affective syndrome''
(CeCAS) (Schmahmann and Sherman, 1998). Aside from prefrontal dysexecutive dysfunctions
such as disturbed cognitive planning and set-shifting, parietal lobe involvement
was reflected by impaired visuo-spatial memory and visuo-spatial disorganization in constructional
tasks. Within the linguistic domain involvement of the prefrontal and temporal
language regions was indicated by impaired letter fluency, incidences of agrammatism,
apraxia of speech and disrupted language dynamics. With regard to mood and behavior,
a number of personality and affective characteristics were found that are typically associated
with prefrontal lobe damage and dysfunction of limbic related regions in the cingulate
and parahippocampal gyri. Disinhibited symptoms characterized behavior and affect of the
mother while the daughter displayed a variety of inhibited symptoms. As a result, behavioral
and cognitive findings in these patients do not support the prevailing view of a global
mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar
induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical
circuitry.