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Table 1 Clinical data of patients with MAPT R406W mutation in a novel Swedish family

From: Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review

Identifier R406W Sex AoO, years DD Clinical diagnosis APOE Early or presenting symptoms Visuospatial Type of memory impairment Language impairment Other cognitive or behavioral symptoms LoI, psychiatric symptoms Parkinsonism, other neurological findings
II-1 (Mut) F 70 9D Dementia NOS N/A N/A N/A N/A N/A Aggression and wandering behavior N/A N/A
III-1 N/A F 57 2(d) None N/A N/A N/A N/A N/A Social withdrawala N/A None
III-3 Mut F 53 27D AD ε3/ε3 Prosopagnosiaa N/A Episodic Reduced output, echolalia (26) Shallow emotions (7), slight disinhibition, confabulation LoI (8), anxiety, paranoid tendencies Rigidity and bradykinesia (25), unexplained falls, dyskinesias in lower jaw
III-4 N/A M 58 17D AD ε4/ε4 Memory impairment Impaired Episodic and semantic Apraxia of speech Disinhibition, aggression and sexual suggestions (9), DV, wandering behavior, confabulation Severe LoI None
III-5 (Mut) M 63 14D N/A N/A N/A N/A N/A N/A Dyscalculia, dysfunctional at household chores, mild behavioral symptoms (11) wandering behavior (11–14) Severe LoI, anxiety (14) None
III-6 Mut F 50 26D AD ε3/ε3 Dyscalculia, social withdrawal, lack of initiative Mild Q, impaired (24) Learning difficulties Reduced spontaneous output Emotional lability, DV (1), mood changes, perseverations, and confabulation (6), disinhibition, aggression and rude language (18), wandering behavior (24) LoI, anxiety Bradykinesia, mild rigidity and dysdiadochokinesia (24), slight tremora, dyspraxia of left hand, dysphagiaa
IV-9 Mut M 51 12(a) MCI N/A Irritabilitya, visuospatial difficultiesa, short-term memory loss N/A Short-term memory loss Dyslexia and dysnomia (5) Confabulation (5), irritability Mild LoI, anxiety, emotional lability (5) None
IV-16 Mut F 52 6(a) None N/A Anxiety, memory impairment Q (3) Episodic (3) No Disinhibition Mild LoI None
  1. Mut R406W heterozygote, (Mut) Obligate carrier of R406W, AoO Age of (symptom) onset, DD disease duration, D indicates disease duration until death, (d) indicates death of an unrelated cause (cancer), and (a) alive, APOE Apolipoprotein E genotype, NOS Not otherwise specified, AD Alzheimer disease, MCI Mild cognitive impairment, N/A Not available, LoI Loss of insight, DV Déjà vu-like experiences (i.e. spontaneously recognizing an unknown place or person), Q qualitative impairment
  2. Numbers in parentheses indicate disease duration at which particular symptom was reported
  3. aSelf-reported or reported by relatives