Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Table 1 Clinical characteristics of patients enrolled in this study

Patient	P1	P3	P4	P5	P6	P7
Gender	M	F	F	M	M	M
Age of onset (yr)	30	8	14 months	2	12	27
Presenting symptoms	Right hand dystonia	Decreased visual acuity	Frequent fall	Development delay	Gait disturbance	Dystonia
Age at diagnosis (yr)	37	10	3	9	15	47
Dystonia	Limb, trunk	Limbs, trunk	Upper limbs	Neck, limbs	Generalized dystonia, opisthotonus	General dystonia, blepharospasm
Bulbar symptoms	Dysarthria	Dysphagia	Dysarthria, dysphagia	Dysarthria		Dysarthria, dysphagia
Gait/ posture problems	( −)	Dystonic posturing, unsteady	Ataxic gait, tip toeing	Dystonic gait	Foot drop, tip toeing	Slow, reduced arm swing, unsteady
Others	( −)	Retinopathy, respiratory difficulty	( −)	autistic behavior, seizure	cognitive decline	insomnia, parkinsonism (bradykinesia, resting tremor, postural instability)
Family history	Denied	Denied	AR	AR	Denied	Sister: NE
Eyes of tiger sign	( +)	( +)	( +)	( +)	( +)	( +)

ISSN: 1750-1172