Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degeneration.
BACKGROUND
Frontotemporal lobar degeneration comprises a group of diseases with clinical presentations and underlying histopathologies that overlap. Familial disease occurs in up to 50% of frontotemporal lobar degeneration cases. One of several underlying histopathological abnormalities is of ubiquitin-positive tau-negative inclusions, similar to those in motor neuron disease.


OBJECTIVE
To compare clinical features of familial and sporadic cases in this pathological subgroup.


METHODS
Case note review of dementia patients with ubiquitin-positive tau-negative inclusion pathological abnormalities proven by autopsy.


METHODS
United Kingdom tertiary referral center.


METHODS
Analysis of clinical features.


RESULTS
Eleven familial cases (autosomal dominant) and 18 sporadic cases were identified. Most familial case patients presented with behavioral disturbances similar to those seen in sporadic behavioral cases. Semantic dementia was only seen in sporadic cases. Atypical features occurred in a minority. Sporadic and familial behavioral cases showed no differences in age at onset or disease duration. Neuropsychological test results revealed frontal or temporal deficits in most, but unexpected early parietal deficits in 1.


CONCLUSIONS
Behavioral features in familial and sporadic cases were similar, but semantic dementia only occurred in sporadic cases. Diagnostic confusion with Alzheimer disease and corticobasal degeneration occurred in some cases.
Godbolt
Alison K
AK
Dementia Research Centre, Institute of Neurology, University College London, England.
Josephs
Keith A
KA
Revesz
Tamas
T
Warrington
Elizabeth K
EK
Lantos
Peter
P
King
Andrew
A
Fox
Nick C
NC
Al Sarraj
Safa
S
Holton
Janice
J
Cipolotti
Lisa
L
Khan
M Nadeem
MN
Rossor
Martin N
MN
D017668:Age of Onset; D001344:Autopsy; D003072:Cognition Disorders / Q000209:etiology*; D003704:Dementia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007806:Language Disorders / Q000209:etiology; D008297:Male; D008569:Memory Disorders / Q000209:etiology*; D008875:Middle Aged; D009483:Neuropsychological Tests; D010375:Pedigree; D012189:Retrospective Studies; D012660:Semantics; D025801:Ubiquitin / Q000032:analysis*; D016875:tau Proteins
D025801:Ubiquitin; D016875:tau Proteins