Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Table 3 Clinical features of ADCA Type III

Subform	N. of Pt	References	AAO (range)	Clinical phenotype			Atrophy
				Common (>50%)	Occasional (10<, <50%)	Rare (<10%)
SCA6	465	[8, 10, 15, 17, 22, 55, 64, 65, 68, 69, 78, 103–111]	45 (16–72)	A, D, nystagmus^#	GEN	IVOR, ISP, ophthalmoplegia, SS, PTS, CI, myoclonus, dystonia, tremor, rigidity, EA	Pancerebellar, pons, cerebellar peduncle, red nucleus
Subform	N. of Pt	References	AAO (range)	Clinical phenotype			Atrophy
Subform	N. of Pt	References	AAO (range)	Common (>50%)		Uncommon (<50%)
SCA5	31	[54, 56, 57]	33 (10–68)	A, D, IVOR, GEN		DBN, hyperreflexia, resting tremor, intension tremor, facial myokimia, ophthalmoplegia, tremor, DVS	Pancerebellar
SCA11	21	[86–88]	25 (11–70)	A, D, ISP, nystagmus, hyperreflexia		ISP, DVS, GEN, IVOR	Pancerebellar
SCA26	15	[91]	42 (26–60)	A, D, ISP		Nystagmus, hyporeflexia	Pancerebellar
SCA30	6	[92]	52 (45–76)	A, D, hyperreflexia		GEN, dystonia	Pancerebellar*
SCA31	114	[33, 93, 95–97]	58(8–83)	A,D, nystagmus, GEN		DVS, Hyperreflexia, spasticity, hearing difficulty, hyporeflexia, tremor	Pancerebellar**

A: ataxia; AAO: age at onset; ADCA: autosomal dominant ataxia; CI: cognitive impairment; D: dysarthria; DVS: decreased vibration sense; EA: episodic ataxia; GEN: gaze evoked nystagmus; ISP: impaired smooth pursuit; IVOR: impaired vestibulo-ocular reflex; N: number; PN: peripheral neuropathy; Pt: patients; PTS: pyramidal tract signs; SCA: spinocerebellar ataxia; SS: slow saccades; *: predominant in superior and dosal cerebellar vermis; ^**: a few cases showed cerebral atrophy; ^#: down beat nystagmus is frequent.

ISSN: 1750-1172