Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred

BMC Medical Genetics

Table 1 Clinical features in the five patients harboring the mutation in the IK family

	III-04	IV-04	IV-07	IV-13	IV-25
Age/Sex	86/M	53/M	60/F	54/F	42/F
Age at Onset, yrs	51	47	50	39	NA
Disease duration, yrs	35	6	10	15	0
SPRS score ^a	47	12	6	16	0
SPRS item 13 ^b	4	1	1	1	0
Spasticity score LL ^c	4	2	1	2	0
Muscle strenght score LL ^d	0	5	4	4	5
Hyperreflexia UL/LL	Contracture	0/+ + +	0/+ +	+/+ + +	0/0
Babinski sign	+	+	Indifferent	+	Indifferent
Decreased vibration sense	na	No	No	No	No
EMG/NCS	na/na	Abnormal*/n	n/n	n/n	na/na
Miscarriage/Pregnancy			1/3	0/0	0/1

M man, F woman, UL Upper Limbs, LL Lower Limbs, na not available, EMG electromyography, NCS nerve conduction studies, n Normal; *slight impairment but no frank signs of denervation.
^aThe SPRS score ranges from 0 (normal) to 52 (severely affected) [12]; ^b1 = Urinary urgency (difficulties to reach toilet in time); 4 = Permanent catheterization; ^cThe Modified Ashworth Scale of Muscle Spasticity score ranges from 0 (no increase in tone) to 4 (affected parts rigid in flexion or extension) [13]; ^dThe Medical Research Council Scale for Muscle Strength score ranges from 0 (no contraction) to 5 (normal strength) [14].

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