. Author manuscript; available in PMC: 2015 Jan 27.

Published in final edited form as: Exp Cell Res. 2011 Jul 2;317(16):2252–2266. doi: 10.1016/j.yexcr.2011.06.017

Table 1.

Clinical features of AxD patients with GFAP tail mutations.

Nucleotide change (types of mutation)	Amino acid substitution	Types of AxD	Clinical symptoms	Reference
1157A>T (missense)	N386I	Infantile	Multifocal seizures, macrocephaly, hypotonia with spasticity, neurologic deterioration, and white matter abnormalities	[26]
1178G>T missense	S393I	Adult	Spastic paraparesis, bilateral Babinski sign, tetrahyperreflexia, dysphagia, dysarthria pseudobulbar speech, and brain stem atrophy	[27–29]
1193C>T missense	S398F	Adult	Spastic gait, dysarthria, dysphagia, and atrophy of medulla oblongata	[30]
1193C>A missense	S398Y	Adult	Atrophy of medulla oblongata	[27,28]
1247–1249 GGG>GG deletion	D417M14X	Infantile	Frontal cerebral atrophy and white matter abnormalities	[12]