Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

Table 1 Clinical features of the Argentinian family

Individual	Age at onset	Age at examination	Initial symptom	Other symptoms	MRI	SARA
I-1	Unaffected	75 years	None	None	Not performed	0
II-2	17 years	48 years	Gait ataxia	Depression Dysarthria Hyper-reflexia Limb ataxia Nystagmus Ophthalmoplegia Pes cavus Proprioception loss Proximal amyotrophy	Cerebellar atrophy	28
II-4	19 years	39 years	Gait ataxia	Depression Dysarthria Hyper-reflexia Limb ataxia Nystagmus Ophthalmoplegia Pes cavus	Cerebellar atrophy	21
II-5	Unknown	37 years	Gait ataxia	Dysarthria Hyper-reflexia Limb ataxia Nystagmus Ophthalmoplegia	Not performed	12
II-6	Unaffected	37 years	None	None	Not performed	0

MRI magnetic resonance imaging, SARA scale for the assessment and rating of ataxia

ISSN: 1752-1947