Nosology of Congenital Non-Progressive Cerebellar Ataxia – Report on six cases in three families

Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

“…3 There is wide clinical variability of other neurologic features such as nystagmus, dystonia, and epilepsy. 3 The vast majority of patients with pure nonsyndromic NPCA with or without cerebellar hypoplasia have an apparently sporadic form of unknown heredity and etiology; however, families exhibiting autosomal recessive, [3][4][5][6][7][8][9][10][11][12][13][14] autosomal dominant inheritance, [15][16][17][18][19][20] and sex-linked recessive [21][22][23] have been reported. 3 The presence or absence of cerebellar hypoplasia on MRI was discordant in two previously reported I-2 II-2 II-3 II-6 II-9 II-12 II-13 II-15 II-16 III-6 Age, y 82 58 56 58 50 49 38 53 49 34 Learning problems sib pairs, confirming suggestions that NPCA with or without cerebellar hypoplasia has the same origin.…”

“…Following the exclusion of several SCA localizations 2,3,4,5,6,7,8,10,12,17, IOSCA, and DRPLA), a genome-wide linkage study was performed. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA).…”

Joubert syndrome: A review

“…We analyzed the data described in 72 case reports: 34 isolated cases and 38 sibs in 17 families [Aicardi et al, 1983;Appleton et al, 1989;Beemer and Gooskens, 1985;Boltshauser and Isler, 1977;Boltshauser et al, 1981;Burroni et al, 1980;Calogero, 1977;Campbell et al, 1984;Casaer et al, 1985;Casamassima et al, 1987;Curatolo et al, 1980;Da Silva et al, 1984;Dekaban, 1969;Dralle and Schmidt-Sommerfeld, 1979;Egger et al, 1982;Fernandez et al, 1979;Fierro et al, 1977;Friede and Boltshauser, 1978;Gustavson et al, 1971;Hartmant-van Rijckevorsel et al, 1983;Haumont and Pelc, 1983;Houdou et al, 1986;Jourbert et al, 1969;King et al, 1984;Lambert et al, 1989b;Laverda et al, 1984;Lindhout et al, 1980;Matsuzaka et al, 1985;Meix and Castroviejo, 1980;Menezes and Coker, 1990;Moore andTaylor, 1984;Pfeiffer et al, 1974;Pierquin et al, 1989;Rossi et al, 1988;Sempere and Serano, 1982;Verloes and Lambotte, 1989;Yacoub et al, 1987;Ziegler et al, 19901. We also included 39 patients, 16 isolated cases and 13 sibs in 6 families with the diagnosis of Joubert syndrome or query Joubert syndrome. These patients were...…”

Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

“…Thus, it is distinct from the Marinesco-Sjdgren syndrome which is characterised by cerebellar ataxia, congenital cataracts, and mental subnormality (Marinesco et al, 1931;Andersen, 1965); from the infantile cerebellar ataxia with progressive external ophthalmoplegia (Franceschetti et al, 1945); from Behr's syndrome of optic atrophy with pyramidal and cerebellar dysfunction (Behr, 1909;Franceschetti and Bamatter, 1940); and from spinocerebellar ataxia with pupillary paralysis (Indemini and Amman, 1961;Sutherland et al, 1963) in which the pupillary light reflexes are absent, but the pupillary accommodation responses are maintained. Congenital non-progressive cerebellar ataxia associated with mental retardation and retinal colobomata has also been described, following an autosomal recessive pattern of inheritance (Pfeiffer et al, 1974). In Refsum's syndrome, the hereditary cerebellar ataxia is associated with chronic hypertrophic polyneuritis and atypical progressive pigmentary degeneration of the retina leading to blindness (Refsum, 1946).…”