Table 1.

Clinical features of the cases presented in this study in comparison to two previously reported cases with the same PLA2G6 variant as in Cases 1 and 2. NA: Not available; (+): present, (−) absent.

	Turkish Patient 1 (Case 1)	Turkish Patient 2 (Affected brother- Case 2)	Moroccan Patient (Case 3)	Romanian Patient (Case 4)	Family 2 (Ref.9)	Index Case (Ref. 10)
Genetic finding	c.2239C>T, p.R747W (Homozygous)		c.1786C>T, p.L596F (Homozygous)	c.1898C>T, p.A633V/c.1765_1768delTCTG, p.S589Tfs*76 (Compound heterozygous)	c.2239C>T, p.R747W (Homozygous)	c.2239C>T, p.R747W (Homozygous)
Major phenotype	HSP		Atypical NAD	Atypical NAD	Dystonia Parkinsonism	Early-onset Parkinsonism
Age of symptom onset (yrs)	9	21	4	7	18	27
Initial symptom	Spastic gait	Scissoring gait	Clumsiness, spasticity (hypertonia)	Frequent falls	Foot drag (subacute)	Foot shuffling and reduced arm swinging
Pyramidal signs
Spasticity	+	+	+	−	+	NA
Brisk reflexes	+	+	+	−	+	−
Achilles clonus	+	+	+	−	+	NA
Babinski sign	+	+	+	+	NA	NA
Cerebellar signs
Ataxia	+	+	−	+	−	NA
Intention tremor	+	−	−	−	−	NA
Dysdiadokinesia	−	−	+	+	−	NA
Abnormal heel-knee-shin test	+	−	NA	+	−	NA
Extrapyramidal signs
Tremor	−	−	−	−	−	+
Rigidity	−	+/−	−	−	+ (cogwheeling)	NA
Bradykinesia	−	−	+	−	+	+
Dystonia	−	−	−	+ (right foot)	+	NA
Dopaminergic response	NA	+	−	NA	+	+
Cognitive impairment	−	−	IQ 60 at age 15	+ (IQ 50 at age 16)	+	+
Psychiatric features	−	+	−	+ (attention deficit disorder)	+	+
Eye movement abnormalities	−	−	−	+	+	−
Dysarthria	+	+	+	+	−	+
Autonomic involvement	−	−	−	−	+	NA
MRI findings	Brain iron accumulation	Brain iron accumulation	Cerebellar atrophy	Cerebellar atrophy	Mild cerebellar atrophy	Marked atrophy of frontal and temporal cortex