Brain involvement in Alström syndrome

Table 1 Epidemiological, genetic and clinical findings of AS patients in the present study

ID	Age (y), Sex	Genotype (exon)	Vision deficit¹	Hearing deficit²	Overweight³	Hypertension⁴	Heart Ejection fraction⁵	Dyslipidemia	DM2⁶	Hepatosteatosis	Psisichiatric disorders P
1	6, M	heterozygosis 8 and 16	+	-	++	-	normal	-	+	-	-
2	9, M	heterozygosis 8 and 16	+	+	++	-	normal	-	+	-	-
3	11, F	heterozygosis 8	+	+	+	-	normal	-	+	+	-
4	12, F	heterozygosis 8	+	+	+	-	normal	-	+	-	-
5	13, F	heterozygosis 8 and 16	++	+	+	+	normal	+	++	+	-
6	18, M	heterozygosis 8	+	+	-	-	normal	-	+	+	-
7	23, M	heterozygosis 10	+	+	+	+	25% *	+	++	+	-
8	26, F	heterozygosis 16	++	+	++	+	47%	-	++	+	depression
9	29, F	heterozygosis 8 and 16	++	+	+	-	normal	+	+	+	depression
10	31, M	homozygosis 8	++	+	+	+	normal	+	-	+	anxiety,depression bulimia⁷
11	43, M	homozygosis 8	++	+	+	+	normal	+	-	+	paranoid personality, disorder ⁸
12	45, F	homozygosis 10	++	+	-	+	normal	+	++	+	-

¹Vision Deficit: + = severe ipovision (< 1/20); ++ = blindness.
²Hearing Deficit: - = normal hearing; + = hearing deficit >20dB;
³Overweight: - = normal weight (Body Mass Index 18.5 to 25), + = overweight (Body Mass Index 25 to 30); ++ = obesity (Body Mass Index > 30).
4Hypertension: - = normotensive; + = under antihypertensive treatment.
5Heart ejection Fraction: normal value > 55%.
6++ = diabetes mellitus type 2, + = insulin resistance or hyperinsulinemia or impaired glucose tolerance.
7 Under therapy with valproic acid, bromazepam and Olanzapine.
8 Under therapy with valproic acid, quetiapine, risperidone, paroxetine.
* Dilated Cardiomyopathy.

ISSN: 1750-1172