Skip to main content
. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47

Table 1.

Phenotypic data of patients

 
 F23
 F24
 F26
 F27
 F28
 F29
 F30
Country of origin India USA USA New Zealand Northern Europe Portugal North Africa
Consanguinity
 -
 -
 na
 -
 -
 Same village
 1 st
Gender
 F
 F
 M
 M
 F
 F
 F
Onset (year)
 4
 2,5
 2
 3
 2
 11
 4
Present age
 10
 9
 10
 22
 7
 38
 20*
Muscle weakness/tone
 +
 +
 +
 +
 +
 +
 +
Reduced MNCVa
 +
 +
 +
 +
 na
 +
 +
Loss of independence (year) or
 8
 3
 3
 10
 na
 -
 na
Total loss of ambulation (year)
 sa
 sa
 8
 18
 7
 sa
 8
Reduction of sensibilityb
 S, D
 S, D
 S, D
 S, D
 S, D
 S, D
 S, D
Areflexia (lower limbs)
 +
 +
 +
 +
 -
 +
 +
Visionc
 O, N
 N
 O, N
 N
 N
 Normal
 N
Dysarthria
 +
 +
 +
 -
 +
 -
 +
Ataxia
 +
 +
 +
 -
 +
 -
 +
Kinky hairs
 +
 +
 +
 -
 +
 -
 +
Giant axon & NF aggregation
 +
 +
 +
 ni
 ni
 +
 +
Suspicion of GAN
 Severe
 Severe
 Severe
 Mild
 Severe
 Mild
 Severe
GAN mutation
 c.724C > T
 c.10-11del
 c.146C > A
 c.[971C > T]; [1391G > A]
 -
 -
 C.994G > A
(Figure 2) R242X   A49E A324V/C464Y     G332R

*Deceased; na, not available; sa, still ambulant; ni, not investigated; -, absence.

1st degree of consanguinity means that parents are first cousins.

aMNCV, motor nerve conduction velocity; bS: Superficial sensitivity (light, touch temperature…); D: deep sensitivity (vibration, space…); cO: optic atrophy; N: nystagmus.

The clinical presentation of patients F23-F27 is further detailed in Roth et al., [22].