Table 1.

Clinical manifestations of Hereditary spastic paraplegia in members of the Siberian family

Patient	II:6	III:3	III:5	III:7	IV:1
Age at Onset, yrs	29	26	27	37	10
Age at Exam, yrs	62	43	59	39	17
Presenting feature	Weakness spasticity	Weakness spasticity	Muscle weakness	Muscle weakness	Muscle weakness
Cognitive function	normal	forgetful	Cognitive delay (mild)	normal	normal
Bulbar dysfunctions	no	no	dysarthria	no	no
Leg Spasticity	++++	++++	++++	++	+++
Muscle contracture	-	-	+++	-	-
Muscle weakness (MRC scale):
Knee flexion	3.5	2.5	2	2	4
Knee extention	3.5	3	2	2	4.5
Ankle flexion	4	3	1.5	2.5	5
Ankle extention	3.5	3.5	1.5	2	5
Toes	3	3	1	1.5	3
Muscle wasting	++	++	++	-	-
Hyperactive reflexes:
Knee	+++	++	++	++	++
Ankle	++	+++	+++	++	+++
Clonus	-	+	+	+	+
Babinski sign	bilateral	no	bilateral	bilateral	bilateral
Decreased abdominal reflexes	no	no	++	no	no
Spastic gait	++++	++++	++++	++	+++
Pinprick	-	-	-	-	-
Vibration	+?	+	+	-	-
Bladder Control	Urinary urgency	normal	Urinary urgency	normal	normal
Pes cavus	+	+	+++	+	++
Ulcerations on legs	++	no	no	no	no
Outcome	Bedridden	Ambulatory	Wheelchair	Ambulatory	Ambulatory

Footnote: "-" or "no" not observed, "+" sign expressed weakly, "++" and "+++" expressed moderately, "++++" expressed strongly, "+?" expressed intermittently, numbers - muscle strength assessment according to the Medical Research Council (MRC) grading scale