Table 2.

Neurologic features.

patient	presenting features	ataxia	other movement disorder	clinical polyneuropathy	neurophysiology	cognitive impairment	wheelchair use from age, y	SARA	MRI findings	age at MRI
p1family1	unsteady gait	yes	dystonia, chorea	no	NA	no	no	NA	normal	2
p2family1	speech difficulty	yes	no	no	NA	no	no	NA	NA	NA
p3family2	balance disturbance	yes	dystonia	yes	NA	yes	4	34	severe atrophy of vermis and cerebellar hemispheres	27
p4family2	balance disturbance	yes	dystonia, myoclonus	yes	Abnormal ENeG	severe	4	NA	severe atrophy of vermis and cerebellar hemispheres, cavernoma	17
p5family3	balance disturbance	yes	dystonia	yes	Abnormal ENeG	yes	8	20	moderate atrophy of vermis and cerebellar hemispheres	10
p6family3	delayed speech and motor development	yes	no	yes	NA	yes	10	28	NA	NA
P7family3	balance disturbance	yes	dystonia, dyskinesia, myoclonus	yes	NA	yes	17	24	general cerebellar atrophy, arachnoid cyst	8
P8family4	immunodeficiency	yes	dystonia, chorea	not described	NA	no	6	NA	severe general cerebellar atrophy	8
p9family5	ataxia	yes	dystonia	yes	NA	yes	10	29	severe general cerebellar atrophy	11
p10family6	ataxia	yes	dystonia, chorea, myoclonus	yes	Abnormal ENeG	yes	9	31	severe general cerebellar atrophy	26
p11family7	unsteady gait	yes	dystonia, chorea	yes	NA	no	yes	33	NA	NA
p12family8	unsteady wide gait	yes	chorea	yes	NA	yes	10	37.5	vermis atrophya	10
p13family9	involuntary movements	no	dystonia, myoclonus	no	Normal ENeG and EMG	no	yes	10	normal	35
p14family10	balance disturbance, dysarthria	yes	dystonia, chorea, myoclonus	no	Normal ENeG and EMG	no	no	7.5	mild vermis atrophy	44

^aSARA, Scale for the assessment and rating of ataxia; MRI, magnetic resonance imaging; ENeG, electroneurography; EMG, electromyography.