Table 1 | MAPT mutation associated with clinical..

MAPT region	Mutation	Clinical features	Origin	Age at onset	Age at death	References
Exon 1	R5L	Falls, dysarthria, micrographia	U.S.A	62	67	[30]
Exon 10	N279K	^*1 bradyphrenia, parkinsonism, apathy	France	40	47	[28]
		^*2 apathy, attentive deficits	France	41	-	[28]
		^*3 parkinsonism with tremor, personality change, ocular apraxia, postural instability	Japan	42	54	[91]
		^*4 parkinsonism, gaze palsy, postural instability		44	56
		^*5 Parkinsonism, gaze palsy, falls		46	-
		^*6 Cognitive impairment, gaze palsy, postural instability, pyramidal signs		41	51
		^*7 Parkinsonism, gaze palsy, falls		42	54
		^*8 Parkinsonism, gaze palsy, falls, pyramidal signs		43	51
		^^ 4 families with a common founder, 39 affected members; parkinsonism or dementia associated with behavioural changes	U.S.A (Caucasian)	32-58	6-9 y of duration	[36]
		^^ 1 family, 3 affected members; parkinsonism or dementia associated with behavioural changes	France	38-45	6-8 y of duration	[36]
	L284R	^*1 multiple falls with progressive dementia	UK (South England)	early-40s	48	[31]
		^*2 personality change, falls, progressive aphasia		mid-40s	52
		^*3 personality change, apathy, falls, dysarthria		43	47
	S285R	^*1 Sporadic, supranuclear gaze palsy, bradykinesia, falls	Japan	46	49	[91]
	∆N296	^*1 gaze palsy, cognitive deficits, emotional lability	Spain	38	-	[92]
		^*2 personality change, parkinsonism	Spain	39	-	[92]
		^*3 Personality change, cognitive impairment, gaze palsy, falls	Japan	44	-	[91]
		^*4 Dysarthria, anterocollis, falls, parkinsonism	Italy	39	-	[33]
	P301L	^*1 Parkinsonism not further characterized	Nederland	-	-	[22]
	G303V	^*1 Parkinsonism, falls, gaze palsy, dysarthria	Spain	37	45	[32]
		^*2 Not well characterized parkinsonism		41	44
		^*3 Not well characterized parkinsonism		late-30s	-
		^*4 Parkinsonism with tremor and rigidity	France	41	45	[27]
		^*5 Parkinsonism, gaze palsy, eye apraxia		37	40
		^*6 Parkinsonism with dystonia, eye apraxia		51	57
		^*7 Parkinsonism with dystonia, gaze palsy		39	44
		^*8 Parkinsonism, gaze palsy, dysphagia		42	46
		^*9 Parkinsonism with dystonia, gaze palsy		32	36
	S305S	^*1 Apathy/cognitive deficits	Australia (Caucasian)	55	-	[35]
		^*2 Dementia, apathy, aphasia		48	51
		^*3 Clumsiness, dysarthria, rigidity		49	56
Intron 10	10+3	^*1 “atypical PSP-presentation” not further characterized	U.S.A.	47	48	[34]
	10+3	^*2 “atypical PSP-presentation” not further characterized	U.S.A.	52	58	[34]
	10+16	^*1 Sporadic parkinsonism with fatigue, apathy, micrographia, falls	UK	40	45	[29]

Table 1: MAPT mutation associated with clinical diagnosis of PSP. ^*: studies with single patients descriptions; ^*^*studies with families descriptions

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