SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Table 2 Neurological and biochemical characteristics of patients with SETX genetic mutations

*Patients*	1 P815	2 P641	3 P390	4 D1642	5 P521	6 P1890	7 A317	8 P522	9 P2426	10* H1207	11* P1277	12 P2062	*13 P657*	P440
*Sex/age*	F/24	M/47	M/45	F/27	F/41	F/21	M/36	F/36	F/14	F/34	M/29	M/20	F/32	F/33
*Age at onset of gait ataxia*	14	11	18	18	18	14	14	15	11	17	18	13	18	15
*Disease duration*	10	36	27	9	23	7	22	21	3	17	11	7	14	18
*Interval onset-wheelchair* (*years*	na	28	20	9	12	na	10	12	na	11	7	na	na	11
*Initial symptom* ²	CH (7yrs)	GA	GA	CH/GA	GA	GA	GA	GA	CH/GA	GA	GA	CH (5yrs)	GA	GA
*Phenotype*
OMA	-	-	-	-	-	-	-	-	-	-	-	-	-	-
Slow saccades	+	+	+	+	+	+	+	+	na	+	+	+	+	+
Strabism	-	+	-	-	-	-	-	+	+	-	-	+	+	-
Distal weakness	+	+	+	+	+	+	+	+	-	-	-	-	+	+
DTR	Abs	Abs	Abs	Abs	Abs	Abs	Abs	Abs	Abs^§	Abs	Abs	Abs	Abs	Abs
Babinski sign	+	-	-	+	-	-	-	-	-	-	-	-	-	-
Pes cavus	+	+	+	+	+	-	+	+	-	+	+	+	+	+
*SARA score*	15	25	20	18	21	12	21	20	9	20	19	14	18	23
*Neurophysiology*
Peripheral neuropathy	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Denervation at EMG	no	+	no	no	no	no	+	+	no	+	+	no	+	+
*Brain MRI*
Vermian Atrophy	++	+++	++	++	++	++	++	+++	++	++	++	++	+++	+
Brainstem atrophy	-	+	++	-	+	-	+	+	-	no	no	no	no	no
*Biochemistry*
AFP, ng/ml	34.5	17.1	32.8	34.0	26.6	19.9	36.2	145	15.4	28.5	54.2	19.4	37.7	27.8
Cholesterol, mg/dl	163	215	140	202	145	203	242	158	na	194	166	142	238	240
CK, U/L	66	671	52	89	51	237	178	42	na	75	209	167	63	37
*Mutation Type*³ Allele 1 Allele 2	StopStop	DelDel	StopStop	StopStop	Miss.Miss.	DelDel	DelStop	MissDel		Miss Stop	Miss.Stop	StopStop	Stop??	Miss.Homoz.Variant

^(*)= these patients were siblings; §= DTR absent only at lower limbs; ²Initial Symptoms: GA gait ataxia, CH choreoathetosis, in parenthesis age in years; na not available, OMA oculomotor apraxia, DTR deep tendon reflexes, Abs absent, SARA Scale for the Assessment and Rating of Ataxia, EMG electromyography, AFP alpha-fetoprotein, CK creatine kinase (in bold are indicated the values above normal range); + = mild; ++ = moderate; +++ = severe. ³Mutation types: Stop mutation, Deletion, Missense mutation (see Table 1).

ISSN: 1750-1172