TABLE 1.

Clinical and Molecular Findings in a Cohort of 50 Adult Polyglucosan Body Disease Patients

Characteristic	Value
Demographic, No. (%)
Gender
F	23 (47)
M	27 (53)
Ethnicity
Ashkenazi	37 (73)
Other Jews	5 (12)
Other	8 (15)
Age at onset, yr [range]
Bladder dysfunction, n = 50	51 ±10 [20–71]
Difficulty walking, n = 44	53 ±5 [33–65]
Paresthesia, n = 24	53 ±6 [34–64]
Motor handicap, age at onset, yr [range]
Walk with 1 cane, n = 29	58 ±4 [51–65]
Walk with 2 canes, n = 10	60 ±5 [53–68]
Walk with walker, n = 26	63 ±4 [55–70]
Wheelchair bound, n = 24	64 ±6 [51–73]
Age at examination, yr [range]	59 ±7 [36–72]
Disease duration, yr [range]	9 ±7 [2–40]
Neurological examination, No. (%)
Romberg
Positive	14 (37)
Borderline	9 (24)
Negative	15 (39)
Tandem
Unable	28 (62)
Abnormal	14 (31)
Normal	3 (7)
LL spasticity	45 (90)
UL spasticity	6 (12)
LL reflexes, knee
Increased	23 (46)
Decreased/absent	15 (30)
Normal	12 (24)
LL reflexes (ankle)
Increased	6 (12)
Decreased/absent	40 (80)
Normal	4 (8)
UL reflexes
Increased	15 (30)
Decreased/absent	9 (18)
Normal	26 (52)
Plantar reflexes
Extensor	48 (96)
Flexor	2 (4)
LL vibration sense
Decreased	46 (94)
Normal	3 (6)
UL vibration sense
Decreased	14 (29)
Normal	35 (71)
Attention deficit	24 (48)
Memory deficit	23 (46)
Eye movement abnormalities, No. (%)
Pursuit
Saccadic	18 (39)
Normal	28 (61)
Voluntary saccades
Slow	9 (20)
Normal	37 (80)
Other features, No. (%)
Orthostatic hypotension	10 (31)
Cerebellar symptoms	8 (16)
Bradykinesia	7 (14)
Molecular findings, No. (% of 46 patients)
Homozygous p.Y329S	22 (48)
Heterozygous p.Y329S	13 (28)
Other
Heterozygous p.Y329S/p.L224P	1
Heterozygous p.Y329S/p.R565Q	1
Heterozygous p.Y329S/c.2003delA	1
Heterozygous p.Y329C/p.N556Y	5
Homozygous p.E242Q	3 {related}

All ages are indicated as mean ± standard deviation and range.

F= female; LL = lower limbs; M= male; UL = upper limbs.