Table 1.

Phenotypic Features of Cases With ATP13A2 Mutation

	KRS‐103‐IV‐2	KRS‐103‐IV‐9	KRS‐103‐IV‐10	KRS‐103‐IV‐13	KRS‐103‐IV‐14
Gender	F	F	F	M	F
Age at onset (y)	10	10	12	11	12
Age at exam (y)	45	33	31	26	24
Presenting symptoms	Slowness of movements	Social isolation, seizure	Speech disorder, disequilibrium, Seizure	Slowness of movements, hand clumsiness	Speech disorder, slowness of movements, disequilibrium
Cognitive deficit	Severe	Prominent	Mild	Mild	Mild
Psychiatric problems	Visual hallucination, depression	Visual hallucination, depression	Depression, anxiety	Visual hallucination, depression	depression
Hypokinesia	+	+	+	+	+
Rigidity	+	+	+	+	+
Dystonia	‐	‐	‐	‐	‐
Tremor	+	+	+	+	+
Postural instability	+	+	‐	‐	‐
Spasticity	+	+	+	+	+
Increased deep tendon reflexes	+	+	+	+	+
Babinski sign	+	+	‐	+	‐
Pes cavus	+	+	+	+	+
Slow saccades	+	+	+	+	+
Vertical gaze palsy	+	+	+	+	+
Dysarthria	+	+	+	+	+
Bladder/bowel dysfunction	+	+	‐	‐	‐
FFF Myoclonus	+	+	+	+	+
Seizure	‐	+	+	‐	‐
Ataxia	Severe	Mild	Mild	Mild	Absent
Brain MRI	Diffuse brain atrophy more prominent in fronto‐temporal region	Not done	Normal	Normal	Not done
Other features	Action myoclonus, pseudobulbar affect	Freezing of gait	‐	Drooling	Drooling

Abbreviations: F, Female; M, Male; FFF, facial‐faucial finger.