Table 1

Ataxic patients without definite diagnosis (group A)

PatientSexAge (y)Age of onset (y)Symptoms at onsetPyramidal signsSigns of peripheral neuropathyNCSBrain MRIGastrointestinal symptomsMalabsorption signsAGA/EMADuodenal biopsy
1M3712Aggressiveness, ataxic gaitNoNoPANoNoNNP
2M2215Ataxic gait, spasticityYesYesNA+C+WMColic pain, constipationNoNNP
3M3827Ataxic gaitNoNoPANoNoAGA and EMA+P
4M4325Weakness, dizzinessNoNoNPA+B+CConstipationNoNNP
5F2116Ataxic gaitNoNoNANoNoNNP
6M276Ataxic gaitYesNoNPA+B+CNoNoNNP
7F5852Ataxic gaitNoNoNPANoNoNNP
8F3722Writing difficultiesNoNoNPANoNoNNP
9M3115Ataxic gaitYesNoPANoNoNNP
10M5846Ataxic gaitNoNoNA+B+CNoNoNNP
11F5550Ataxic gaitNoNoPA+B+CConstipationNoNNP
12M237Ataxic gait, dysarthriaNoNoNPA+WMConstipationNoNNP
13F5957Ataxic gait, dysarthriaNoNoNA+BNoNoNNP
14F2626Ataxic gaitNoYesPANoNoNNP
15M6449Ataxic gait, dizzinessNoNoNA+CNoNoNNP
16M558Ataxic gaitNoYesNPA Colic pain, diarrhoeaNoNNP
17M6462Ataxic gaitNoNoNA+CNoNoIgG AGA+P
18M3312Dysarthria, ataxic gaitYesNoNA+CNoNoNNP
19F3427Ataxic gaitNoNoPANoNoIgG AGA+P
20M4843Ataxic gait, dysphoniaYesNoNA+CNoNoNNP
21M4125DysarthriaNoYesPAConstipationNoNNP
22M6239Ataxic gaitNoYesNPA+B+CConstipationNoNNP
23M5350Unsteadiness, ataxic gaitNoYesPANoNoNNP
24M6662Weakness, tremorNoYesPANoNoNNP
  • Pyramidal signs=Babinski‚Äôs sign or hyperreflexia plus spasticity; signs of peripheral neuropathy=absence or reduction of distal reflexes associated with reduced vibratory sense; NCS= nerve conduction studies

  • P=pathological; N=normal; NP=not performed; A=cerebellar atrophy; B=brainstem atrophy; C=cortical cerebral atrophy; WM=white matter abnormalities

  • AGA=antigliadin antibodies; EMA=antiendomysium antibodies.