Table 1 Clinical and neurophysiological features

Sex/Current age (years)

M/50

F/73

F/58

M/32

F/81

Ethnicity

Swedish

Swedish

Swedish

Central European^a/Swedish

Swedish

Age of onset/Disease duration (years)

7/43

6/67

7/51

6/26

9/72

Initial symptoms

Feet supination

Unsteady gait

Unsteady gait

Running difficulties

Toe walking

LL paresis distal/ proximal

Severe/Moderate

Severe/Normal

Moderate/Absent

Mild/Absent

Severe/Moderate

UL paresis distal/proximal

Severe/Moderate

Moderate/Normal

Mild/Absent

Absent

Moderate/Absent

Walking disability

Wheelchair

Sticks

Minimal disability

Minimal disability

Wheelchair

Deep tendon reflexes

Absent

Absent

Absent

Absent

Absent

Pinprick sensation

Absent to the knee + reduced to the wrists

Reduced to the ankles + wrists

Reduced to the ankles +wrists

Reduced to the ankles + wrists

Reduced to the ankles + wrists

Vibration sense

Absent at knee

Absent at knee

Absent at knee

Absent at knee

Reduced to sternum

Pes cavus

Y

Y

Y

Y

Y

Scoliosis

Y

Y

Y

Y

Y

Hearing loss

Y

Y

Y

Y

Y

Eye movement abnormalities

Horizontal gaze evoked nystagmus, hypermetric saccades

Horizontal gaze evoked nystagmus,

Absent

Square wave jerks on fixation, horizontal gaze evoked nystagmus,

Hypometric saccades, gaze-evoked nystagmus,

Other features

Dysphagia, aspiration pneumonia in later stages

Trigeminal neuralgia

Tremor, trigeminal neuralgia

Urinary incontinence

Dysarthria

Dysphagia

FARS

5

4

1

1

5

SARA (age of last exam, years)

22 (50)

8.5 (72)

4.5 (57)

5 (30)

30.5 (78)

CMTES

28

13

9

10

19

NCS

Demyelinating neuropathy

Demyelinating neuropathy

Demyelinating neuropathy

Demyelinating neuropathy

Axonal and demyelinating neuropathy

Brain MRI

Normal

Normal

Bilateral thickening of trigeminal nerves

Normal

Cerebellar and frontoparietal atrophy