. Author manuscript; available in PMC: 2010 Mar 19.

Published in final edited form as: Brain. 2008 Mar 5;131(Pt 4):1078–1086. doi: 10.1093/brain/awn026

Table 2.

REEP1 mutations and clinical characteristics

Family	ANT25	ANT28	ANT40	BO1-0009	BO1-0010	TU2-0077	03-0914	02-1764	05-3263	M1516	I1018
Mutation	c.-1_2delCAT	c.595G>C	c.104_105delAT	c.606 + 43G>T; miR140	c.183-1 _183insCT	c.303G>A	c.282delC	c.417 + 1G>T	c.417 + 1G>T	c.537_540delCGGC	c.33-?_606+ ?dup
No of individuals genotyped (affected)	9(2)	3(2)	8(5)	2(1)	2(2)	1(1)	1(1)	2(2)	2(2)	39(21)	1(1)
No of individuals clinically examined	3	2	3	1	2	1	1	2	3	14	2
Origin	Belgium	Belgium	Spain	Germany	Germany	Germany	The Netherlands	The Netherlands	The Netherlands	The Netherlands	Ireland
Mode of inheritance	AD	AD	AD	AD	AD	S	S	AD	AD	AD	AD
Phenotype	Pure	Pure	Pure	Pure	Pure	Pure	Pure	Pure	Pure	Pure	Pure
age at onset in years	4; 32^a	4; 5	<10 (3x)	50^c	3; 3	42	<10	2; 38	8; 11; 14	range 1–75	42; 90
Mean disease duration in years [range]	18 [17–19]	16.5 [3–30]	2–5 decades/unknown	9	21	12	> 4 decades	unknown	25 [19–31]	0.5–1	5
Severity	Mild– moderate	Mild–moderate	Mild– moderate	Mild	Mild	Mild	Severe	Mild	Moderate – severe	Mild–moderate – severe	Mild–moderate
Lower limb spasticity	+	+	+	+	+	+	+	+	+	+	+
Lower limb weakness	Distal	Variable	−	+	+	+	++	Distal	Variable	Variable	+
Muscle wasting	−	Variable	−	−	+	Distal	−	−	Variably distal	Variable
Hyperreflexia	+	+	+	+	+	+	−	+	+	+
Plantar reflexes	Extensor	Extensor	Variably extensor	Extensor	Extensor	Extensor	Extensor	Extensor	Variably extensor	Extensor	Extensor
Vibration sense (ankles)	Normal	Variably decreased	Normal	Decreased	Normal	Normal	Decreased	Variably decreased	Variably decreased	Normal	Decreased
Bladder disturbances	−	Variably urgency	−	Urgency	−	−	−	−	Urgency	−	Urgency
Additional features	−	Distal amyotrophy of upper limbs, scoliosis^b	−	−	−	−	−	−	−	Muscle weakness of hands^b	Early upper limb involvement
MRI	Normal (III.2: right cerebellar venous angioma)	II.1: small unspecific white matter lesions in frontal lobe	III.1 normal	n.d.	n.d.	white matter lesion above the trigonum	n.d.	normal	CCT normal	normal	normal
Neurophysiology	IV.1: normal	II.1: sensory-motor per- ipheral neuropathy in upper limbs	III.1 normal	No MEP; NCV normal	MEP normal, NCV normal	CMT increased latency; NCV normal	n.d.	n.d.	normal	n.d.	n.d.

n.d. = not determined; No MEP = no motor-evoked potential after cortical stimulation; CMT = central motor conduction time; NCV = nerve conduction velocity; AD = autosomal dominant; S = sporadic; CCT = cranial computer tomography.

One mutation carrier (ANT 25-II.2 in Fig. 2) did not show any signs of spasticity upon examination at age 76.

Additional features only found in older affected.

Sibbling of index patient (BO1-0009-II.2 in Fig. 2) is subjectively asymptomatic at age 56 but has not consented to a neurological examination.