Gene: [11q21/CLA1] cerebellar ataxia 1 (autosomal recessive); [CPD3 ]

COM

[1] This marker is described in MIM:213200 as cerebelloparenchimal disorder III.
[2] The GDB does not consider the locus CLA1 as being mapped, although the linkage with TYR allows to map it; see GEM:11q21/TYR."

HET

Cerebellar ataxia as a symptom is one of pathognomonis features of ataxia telangiectasia (Louis-Bar syndrome), which is determined by an independent locus in the same chromosome (GEM:11q2/ATM)."

LIN

Linkage of CLA1 with a generalized type of albinism (GEM:11q21/TYR) was shown. It is indicated in MIM:213200 that this linkage is questionable."

HIS

Since the gene TYR was mapped in 11q14-21, an anonymous linkage group LG5, which was previously mentioned in the catalogues and included two genes (CLA1 and TYR) is now assigned to chr 11."

REL

GEM:0X^/CLA2; GEM:00.0/CLA3.

REF

FOG,LIN "Bamezai R &: Clin Genet, 31, 178-181, 1987
HIS,PHE "Jervis GA: Acta Genet Med Gemellol, 3, 153-162, 1954
HIS,PHE "Jervis GA: J Nerv Ment Dis, 111, 398-407, 1950
HIS,PHE "Norman RM: Brain, 63, 365-379, 1940
FOG,LIN "Skre H, Berg: Clin Genet, 5, 196-204, 1974
FOG,LIN "Wichman &: Clin Genet, 27, 373-382, 1985

KEY

neu

CLA

unknown, basic

LOC

11 q21?

MIM

MIM: 213200

SYN

CPD3