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Cerebellar agenesis : clinical, neuropsychological and MR findings
TIMMANN D; DIMITROVA A; HEIN KROPP C
NEUROCASE , 2003, vol. 9, n° 5, p. 402-413 Doc n°: 111193 Localisation : Documentation IRR Descripteurs : AK15 - IRM , AD6 - MANIFESTATIONS NEUROCOMPORTEMENTALES - FONCTIONS COGNITIVES Cases of cerebellar agenesis are rare. The degree of motor impairment is a matter of discussion. It has been claimed that normal motor function can be observed. Detailed descriptions of neurological findings, however, are lacking. Neuropsychological testing in cerebellar agenesis is of additional interest based on recent findings of impaired non-motor functions in cerebellar disease. The case of an elderly woman with cerebellar agenesis is presented. 3D-MR imaging was used to confirm the diagnosis. Neurological and neuropsychological examination was performed including video documentation (see the authors' own website). To assess deficits of motor learning eyeblink conditioning was investigated. Neurological examination revealed mild to moderate signs of cerebellar dysarthria, upper and lower limb ataxia and ataxia of stance and gait. Motor learning was affected as shown by inability to acquire conditioned eyeblink responses. In addition, neuropsychological testing disclosed mild to moderate deficits in 10, planning behavior, visuospatial abilities, memory and attention. Cerebellar ataxia, although clearly present, was less than one would expect in almost complete absence of the cerebellum. Neuropsychological deficits, on the other hand, appeared to be more marked than one would expect in cerebellar disease. No conclusion, however, could be drawn whether impaired cognitive development and neuropsychological test performance were directly related to lack of cerebellar function, or caused by impaired motor development and performance. Langue : ANGLAIS Tiré à part : OUI Identifiant basis : 2004229261 |
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