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Table 1 Clinical and neurophysiological features

From: The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

Patient 1 2 3 4 5
Sex/Current age (years) M/50 F/73 F/58 M/32 F/81
Ethnicity Swedish Swedish Swedish Central Europeana/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
  1. The course of disease was slow in most cases, however in patient 1 it has been faster and more aggressive making him wheel-chair bound at age 50. All patients harbor the homozygous R954X mutation in SH3TC2. a One parent was Hungarian. Key: M Male, F Female, n/a Not available, LL Lower limbs, UL Upper limbs, Y Yes, N No, FARS NA, no assessed, Friedreich’s Ataxia Rating Scale, SARA Scale for the Assessment and Rating of Ataxia, CMTES Charcot-Marie-Tooth examination score, NCS Nerve conduction studies
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Cerebellum & Ataxias

ISSN: 2053-8871