Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Table 2 Systemic and neurological symptoms before miglustat therapy

		Gender	Visceral			Neurological
Patient	NP-C gene mutations		Cholestasis	HSM	Lung involvement ( specific )	Motor or cognitive deficits*	Cerebellar ataxia (clumsiness)	Dysarthria (speech delay)	Dystonia^† (distal motor deficit)	Dysphagia	VSGP	Cataplexy	Epilepsy
Perinatal visceral
#1	NPC2 C99R/C99R	F	Yes (and cirrhosis)	Yes	No	NA	NA	No	No	Yes	No	No	No
Early-infantile
#2	L830P/R958X	F	Yes	Yes	No	Yes	No	No	(Yes)	Yes	Yes	No	No
#3	C63fsX75/C63fsX75	F	Yes	Yes	No	Yes	No	No	(Yes)	No	Yes	No	No
#4	T1205R/T1205K	M	No	Yes	Yes	Yes	No	(Yes)	(Yes)	No	Yes	No	No
#5	IVS21-2delATGC/ IVS21-2delATGC	M	Yes	Yes	Yes	Yes	No	No	No	No	No	No	No
#6	G1195V/G1195V	M	Yes	Yes	No	Yes	No	(Yes)	No	No	No	No	No
#7	P543L/IVS14 + 1G > A	F	Yes (and cirrhosis)	Yes	Yes	Yes	No	(Yes)	No	No	Yes	No	No
#8	P543L/T1205fs	F	Yes	Yes	Yes	Yes	No	(Yes)	No	Yes	No	No	No
#9	T1036M/T1036M	F	Yes (foetal)	Yes	Yes	Yes	No	(Yes)	(Yes)	No	No	No	No
Late-infantile
#10	Y509C/del exon4	F	No	Yes	No	Yes	(Yes)	(Yes)	No	Yes	Yes	No	No
#11	I1061T/D242H	M	Yes	Yes	No	Yes	Yes	Yes	No	Yes	Yes	Yes	No
#12	P1007A/T1205K	M	No	No	No	Yes	Yes	No	No	Yes	Yes	Yes	Yes
#13	P1007A/T1205K	F	No	No	No	Yes	Yes	No	No	No	Yes	Yes	Yes
#14	R518W/G992W	M	No	No	No	Yes	(Yes)	(Yes)	No	No	Yes	No	No
#15	A470P + I837V/A470P + I837V	M	No	Yes	No	Yes	Yes	No	No	No	Yes	No	No
#16	R518W/D944N	F	No	No	No	Yes	Yes	Yes	No	No	Yes	No	Yes
#17	I1061T/R934X	M	No	No	No	Yes	Yes	Yes	No	Yes	Yes	No	Yes
Juvenile
#18	I1061T/Q421X	M	No	Yes	No	Yes	Yes	No	No	No	Yes	No	No
#19	Q991fsX1005/W1143R	F	No	No	No	Yes	No	No	No	Yes	Yes	Yes	Yes
#20	I1061T/I1061T	F	No	No	No	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes

* Motor deficits (hypotonia and motor delay) in early-infantile onset patients, cognitive deficits (learning difficulties) in late-infantile and juvenile onset patients; ^† distal motor deficit in early-infantile patients due to peripheral neuropathy, and ‘dystonia’ in late-infantile and juvenile patients. HSM = hepatosplenomegaly; VSGP = vertical supranuclear gaze palsy.

ISSN: 1750-1172