常染色体显性遗传性小脑共济失调I型

Autosomal dominant cerebellar ataxia type I

ORPHA:94145疾病组

定义

一组脊髓小脑共济失调 (SCAs) ，其特征是共济失调伴其他神经系统症状，包括动眼障碍、认知障碍、锥体和锥体外系功能障碍及延髓、脊髓和外周神经系统受累。

常染色体显性遗传性遗传性小脑共济失调1型

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
AFG3L2	AFG3 like matrix AAA peptidase subunit 2	ORPHA:101109
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	ORPHA:1171
ATXN1	ataxin 1	ORPHA:98755
ATXN2	ataxin 2	ORPHA:98756
ATXN3	ataxin 3	ORPHA:276238
ATXN8	ataxin 8	ORPHA:98760
ATXN8OS	ATXN8 opposite strand lncRNA	ORPHA:98760
CAMTA1	calmodulin binding transcription activator 1	ORPHA:314647
CCDC88C	coiled-coil and HOOK domain protein 88C	ORPHA:423275
DAB1	DAB adaptor protein 1	ORPHA:363710
DNMT1	DNA methyltransferase 1	ORPHA:314404
ELOVL4	ELOVL fatty acid elongase 4	ORPHA:1955
FGF14	fibroblast growth factor 14	ORPHA:98764
IFRD1	interferon related developmental regulator 1	ORPHA:98771
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	ORPHA:208513
KCNC3	potassium voltage-gated channel subfamily C member 3	ORPHA:98768
KCND3	potassium voltage-gated channel subfamily D member 3	ORPHA:98772
NOP56	NOP56 ribonucleoprotein	ORPHA:276198
PDYN	prodynorphin	ORPHA:101108
PLD3	phospholipase D family member 3	ORPHA:589522
PNPT1	polyribonucleotide nucleotidyltransferase 1	ORPHA:101111
POU4F1	POU class 4 homeobox 1	ORPHA:314647
PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	ORPHA:98762
PRKCG	protein kinase C gamma	ORPHA:98763
SCA20	spinocerebellar ataxia 20	ORPHA:101110
SCA25	spinocerebellar ataxia 25	ORPHA:101111
SCA32	spinocerebellar ataxia 32	ORPHA:276183
SCA37	spinocerebellar ataxia 37	ORPHA:363710
TBP	TATA-box binding protein	ORPHA:98759
TGM6	transglutaminase 6	ORPHA:276193
TMEM240	transmembrane protein 240	ORPHA:98773

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