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Genetic disorders and cerebellar structural abnormalities in childhood Ramaekers VT; Heimann G; Reul J; Thron A; Jaeken JBrain 1997[Oct]; 120 ( Pt 10) (ä): 1739-51Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. From these data, new proposals for improved diagnostic investigations will be presented.|Adolescent[MESH]|Atrophy[MESH]|Cerebellum/*abnormalities/*pathology[MESH]|Child[MESH]|Child, Preschool[MESH]|Female[MESH]|Genes, Recessive[MESH]|Genetic Diseases, Inborn/*pathology[MESH]|Humans[MESH]|Infant[MESH]|Magnetic Resonance Imaging[MESH]|Male[MESH] |
