Table 1.

Cases Identified with CHMP2B Missense Mutations.

DNA Change	Protein Change	Disease	Family History	Controls Analysed in Study	Reference
c.85A>G	I29V	FTD	Y	190	[63]
c.85A>G	I29V	FTD-MND	Possible	640	[62]
c.85A>G	I29V	PMA	N	500	[60]
c.85A>G	I29V	PMA	N	500	[60]
c.311C>A	T104N	PMA	Y	500	[60]
c.428A>G	N143S	CBD	Y	459	[19]
c.442G>T	D148Y	SD	N	100	[20]
c.618A>C	Q206H	PMA	N	500	[60]

FTD-MND – Frontotemporal Dementia with Motor Neuron Disease. PMA – Primary Muscular Atrophy. CBD – Corticobasal Degeneration. SD – Semantic Dementia.