Table 1.

Clinical, demographic, radiological and biochemical details of our patients

		Probands
	A	B	C	D	E	Mean
Features
Males/females	M	M	M	F	M	4 M/1F
Consanguinity	Yes	No	No	No	Yes	2/5
World area	Morocco	Italy	Italy	Italy	Italy
Age last examination (y)	36	33	56	21	47	38,6
Onset (y)	10	0	12	2	10	6,8
Progression (y)	26	33	44	20	37	32
Spasticity	Yes	Yes	Yes	Yes	Yes	5/5
Sphincteric symptoms	Yes	Yes	No	Yes	No	3/5
Cerebellar syndrome	Yes	Yes	No	Yes	Yes	4/5
Peripheral neuropathy	Yes	Yes	Yes	No	Yes	4/5
MCI	No	Yes	Yes	Yes	Yes	4/5
Cataract	Yes	Yes	No	Yes	Yes	4/5
Scoliosis	Yes	Yes	No	No	No	2/5
Pes cavus	Yes	No	No	No	No	1/5
Hypogonadism	No	No	No	-	No	0/4
Movement disorders	No	No	Yes	No	No	1/5
Head tremor	No	No	No	No	No	0/5
Cervical/facial dystonia	No	No	No	No	No	0/5
Facial myokimias	No	No	No	No	No	0/5
Limb dystonia	No	No	Yes	No	No	1/5
Limb tremor	No	No	Yes	No	No	1/5
Other symptoms/signs	UGP	No	UGP	No	No	2/5
SPRS	23	31	NA	11	30	23.75
Overall phenotype
HSP ph	Yes	Yes	Yes	Yes	Yes	5/5
ARCA ph	-	-	-	-	-	0/5
M-S ph	-	-	-	-	-	0/5
MRI						5/5
TCC	Yes	No	No	Yes	No	2/5
Cerebellar atrophy	Yes	No	No	No	No	1/5
Brainstem atrophy	Yes	No	No	Yes	No	2/5
Cerebral atrophy	No	No	No	No	No	0/5
WMA	Yes	No	Yes	Yes	Yes	4/5
GBA2 activity probands	0.28 nmol/mg	0.01 nmol/mg	Pending	Pending	NA	0.145 nmol/mg