Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Table 1 Clinical and molecular characteristics of the studied patients

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Family	F1	F1	F2	F2	F3	F4	F5
Sex	Female	Male	Male	Male	Male	Male	Male
Age (years)	47	49	38	44	18	33	31
Pathogenic variant	R141H/N216I	R141H/N216I	R141H/V129M	R141H/V129M	R141H/N216I	R141H/L32R	R141H/D223N
Phenotype	Severe	Moderate	Severe	Moderate	Moderate	Mild	Severe
Dysmorphic features	+	+	+	+	+	+	+
Motor disability	+	+	+	+	+	−	+
Retinopathy	+	+	+	+	+	+	+
Intellectual disability	Moderate	Moderate	Moderate	Moderate	Moderate	Moderate	Moderate
Cerebellar atrophy	Severe	Severe	Severe	Severe	Severe	Moderate	Severe
Microcephaly	+	+	−	−	+	−	−
Epilepsy	−	−	+	+	−	−	+
Stroke-like episodes	+	+	+	+	−	−	+
Peripheral neuropathy (tibial nerve mCV)	30 m/s	29 m/s	27 m/s	31 m/s	29 m/s	NA	30 m/s
NCRS T	37	30	40	29	27	8	39
NCRS I	13	11	14	10	6	2	13
NCRS II	6	3	4	3	3	1	6
NCRS III	18	16	22	16	18	4	20
BARS T	22	22	22	22	20	6	22
BARS A	8	8	7	7	7	0	8
BARS B	4	4	4	4	4	2	4
BARS C	4	4	4	4	3	2	4
ADL T	24	21	24	21	19	9	24

+ (present); − (absent); mCV: motor conduction velocity; NA: not acquired; NCRS T: Nijmegen CDG Rating Scale Total score mild (0–14), moderate (15–25) and severe (> 26) disease; NCRS I: Current function score; NCRS II: System specific involvement score; NCRS III: Current clinical assessment score; BARS T: Brief ataxia rating scale (BARS) Total score (maximum severity score: 30); BARS A: Gait score; BARS B: Knee-tibia test score; BARS C: Finger-to-nose test score. ADL T: Activity of Daily Living scale Total score (maximum severity score: 36)

ISSN: 1750-1172