Table 2

Ataxic patients with definite diagnosis (group B)

Patient	Sex	Age (y)	Age of onset (y)	Diagnosis	Symptoms at onset	Pyramidal signs	Signs of peripheral neuropathy	NCS	Brain MRI	Gastrointestinal symptoms	Malabsorption signs	AGA/ EMA
1	M	60	48	ADCA	Ataxic gait	No	Yes	P	A+B	Alternating constipation and diarrhoea	No	N
2	M	51	50	ADCA	Dysarthria	No	Yes	N	A	No	No	N
3	M	43	34	ADCA	Ataxic gait, dysarthria	No	No	P	A	No	No	N
4	F	44	36	ADCA	ataxic gait, dysarthria	No	No	P	A+C	No	No	N
5	M	59	49	ADCA	Ataxic gait, falls	Yes	No	NP	A+B+C	No	No	N
6	F	28	17	ADCA	Upper limbs tremor	Yes	No	N	A+B+C	Constipation	No	N
7	M	46	33	FA	Ataxic gait	No	Yes	P	A	No	No	N
8	F	27	14	FA	Ataxic gait	Yes	Yes	P	A	Constipation	No	N
9	F	29	12	FA	Ataxic gait	Yes	Yes	P	VE	No	Iron deficiency	N
10	M	35	17	FA	Ataxic gait	Yes	Yes	P	NP	Constipation	No	N
11	M	20	14	FA	Ataxic gait	Yes	Yes	P	N	Dyspepsia	No	N
12	M	43	26	FA	Ataxic gait	No	Yes	P	N	No	No	N
13	M	29	15	FA	Lower limbs weakness	Yes	Yes	NP	NP	No	No	N
14	F	26	14	FA	Ataxic gait	No	Yes	P	A	Constipation	No	N
15	F	29	18	FA	Ataxic gait	Yes	Yes	P	A	No	No	N
16	M	23	18	FA	Lower limbs weakness	No	Yes	P	NP	Constipation	No	N
17	M	24	20	FA	Ataxic gait	No	Yes	P	NP	No	No	N
18	F	17	11	FA	Ataxic gait	No	Yes	P	N	No	No	N
19	F	32	12	FA	Ataxic gait	Yes	Yes	NP	NP	No	No	N
20	F	23	3	FA	Ataxic gait	Yes	Yes	NP	NP	No	No	N
21	F	28	20	FA	Ataxic gait	No	Yes	P	A	No	No	N
22	F	48	30	FA	Lower limbs tremor	Yes	Yes	P	NP	No	No	N
23	M	20	12	FA	Ataxic gait	Yes	Yes	P	NP	No	No	N

ADCA=autosomal dominant cerebellar ataxia; FA=Friedreich’s ataxia; pyramidal signs=Babinski’s 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; VE=ventricular enlargement
AGA=antigliadin antibodies; EMA=antiendomysium antibodies.