Über das Verhalten des Kleinhirns in einem Falle von endogen-afamiliärer Idiotie

Concordant primary atrophy of the cerebellar granules in monozygotic twins

“…Some of Scherer's cases (6) of cerebellar atrophy may be included in this group although cortical lesions were less selective in distribution. The patient described by Santha (7) showed perhaps more extensive lesions of the Purkinje cells than in other cases of this disease. The patients reported by Norman (1), Jervis (3) and Ule (2) compared closely in all their clinical and pathologic details to the case here described.…”

Congenital Granuloprival Hypoplasia of Cerebellar and Hippocampal Cortex

“…3 3 Among the cases listed in Table 1, all the familial cases occurred only in siblings. Autosomal recessive inheritance may be suggested, but no consanguinity was reported in those cases, except for the case described by Hunter et al24 Gene defect was implicated in the murine mutant, &dquo;iveaver,&dquo; with granule cell degeneration The wide variety of clinical manifestations among those familial cases (cases 8,9,11,12,[14][15][16]20, and 21 from Table 1)3--6,'2,m,2~,2b suggests that the gene defect for this disease may not be in a single allele, and modified defects in a gene locus may be responsible for the varied time of death and clinical severity. No notable clinical difference can be identified in sporadic cases (cases 1-7,10,13,17-19 from Table It,8-l1,25,27-29 when compared with the familial cases.…”