Skip to main content

Table 2 Phenotypes of specific tau gene mutations seen in FTDP-17 patients.

From: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

  Exon    
Clinical feature 1 9 11 12 13 10 Intron 10
Average age at onset, y          
   ≤30     S352L   P301S    
     G335V      
   31–40   L266V S320F   G389R delN296    
       S305N    
       G303V    
   41–50   G272V K317M E342V   N279K +3 +11 +14
   K257T     P301L +16   
   >50 R5H I260V L315R V337M R406W del280K +12 +13 +19
  R5L    Q336R T427M L284L +29   
     K369I   N296H    
       S305S    
       N296N    
Average duration, y          
   ≤5 R5H L266V L315R S352L G389R del280K +29   
  R5L K257T     delN296    
       N296H    
       S305N    
       G303V    
   6–10   G272V I260V K317M E342V Q336R T427M N279K
P301L
+11 +12  
     K369I   S305S    
     G335V   N296N    
       L284L    
       P301S    
   11–15    S320F V337M    +3 +14 +16
   >15      R406W     
First sign          
   Parkinsonism R5L   K317M    N279K +3 +11  
       P301L    
       delN296    
       S305S    
       N296N    
       G303V    
   Dementia R5H K257T S320F Q336R R406W L284L +3 +12 +29
    L315R    delN296    
   Personality change   G272V L315R V337M T427M P301L +12 +14 +16
   I260V   E342V   N296H +19 +29  
     K369I   S305S    
     G335V   S305N    
Parkinsonism          
   Early-prominent    K317M    N279K +11   
       delN296    
       S305S    
       N296N    
       G303V    
   Late-prominent       P301S +3 +12 +14
       N296H +16 +29  
   Rare-minimal R5L G272V   S352L   P301L    
       S305N    
Dementia          
   Early-prominent   L266V S320F Q336R R406W delN296 +12 +29  
   K257T L315R G335V T427M S305S    
   I260V        
   Late-prominent   G272V   V337M   del280K +3 +11 +13
     K369I   L284L    
       P301L    
       P301S    
       S305N    
   Rare-minimal    K317M    N279K
G303V
   
Personality change          
   Early-prominent   L266V L315R V337M R406W del280K +12 +14 +16
   G272V   K369I T427M L284L +19 +29  
   I260V   G335V   P301L    
   K257T     P301S    
       S305S    
       S305N    
Other clinical features          
   Language s   G272V S320F Q336R G389R N279K +14 +16 +29
   difficultie   K257T L315R   T427M L284L    
   I260V K317M    N296H    
       P301L    
       S305S    
       N296N    
       G303V    
   Late mutism    L315R V337M R406W N279K +16 +29  
      T427M del280K    
       N296H    
       P301S    
       S305N    
   Eye movement       N279K +3   
   abnormalities       N296H    
       P301S    
       delN296    
       S305S    
       N296N    
       G303V    
   Epilepsy     S352L   P301S    
   Myoclonus     V337M   N279K +11   
     S352L   P301S    
   Pyramidal signs       N279K +3 +12  
       P301S    
       N296N    
       G303V    
       S305S    
   Amyotrophy    K317M    P301L
N296N
+14