Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Table 1 Clinical and demographic characteristics of TIA1 mutation carriers

Case	Sex	Onset (yrs)	Death or [Current Age] (yrs)	Presenting Symptom	Park	Psych	Final/Current Clinical Diagnoses	Family History	TIA1 Mutation [19]	Post Mortem Exam
^aUBCU2-1	F	51	55	limb weakness	no	no	ALS, early bvFTD	ALS, FTD, dementia	p.P362L	yes
^aUBCU2-2	F	55	[55]	abnormal memory tests	no	no	CSND	ALS, FTD, dementia	p.P362L	n/a
^aUBCU2-14	F	28	30	aphasia, behavioral changes	no	no	FTD (PPA), ALS	ALS, FTD, dementia, dyslexia	p.P362L	yes
NWU-1	F	65	68	aphasia	no	no	FTD (PPA), ALS	dementia	p.M334I	yes
TOR-1	F	73	79	aphasia	no	no	FTD (PNFA), ALS	cardiovascular disease	p.A381T	yes
ALS701-1	F	74	76	bulbar weakness	no	no	ALS, aphasia	none	p.G355R	no
ALS458-1	F	63	[64]	bulbar weakness	no	no	ALS	ALS, Parkinson’s	p.V294 M	n/a
ALS752-1	F	58	59	bulbar weakness	no	no	ALS	none	p.V360 M	yes
PITT-87	F	64	66	limb weakness	no	no	ALS	none	p.A381T	no

ALS amyotrophic lateral sclerosis, bvFTD behavioral variant FTD, CSND clinically symptomatic not demented, F female, FTD frontotemporal dementia, n/a not applicable, Park parkinsonism, PNFA progressive non-fluent aphasia, PPA primary progressive aphasia, not otherwise specified, Psych psychosis, yrs. years
^adenotes members of the same family

ISSN: 2051-5960