Mapping the progression of progranulin-associated frontotemporal lobar degeneration.
BACKGROUND
A 55-year-old woman was followed over a 13-year period as part of a longitudinal study of people at risk for familial dementia. She was a member of a family with an autosomal dominant familial dementia that fulfilled consensus criteria for frontotemporal lobar degeneration. The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction.


METHODS
Clinical assessments, neuropsychometry, volumetric brain MRI, and genetic mutation screening.


METHODS
Progranulin-associated frontotemporal lobar degeneration.


RESULTS
Explanation of the patient's condition and genetic counseling for her family.
Rohrer
Jonathan D
JD
Dementia Research Centre, Institute of Neurology, University College London, London, UK.
Warren
Jason D
JD
Barnes
Josephine
J
Mead
Simon
S
Beck
Jonathan
J
Pepple
Tracey
T
Boyes
Richard
R
Omar
Rohani
R
Collinge
John
J
Stevens
John M
JM
Warrington
Elizabeth K
EK
Rossor
Martin N
MN
Fox
Nick C
NC
D001931:Brain Mapping / Q000379:methods*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology / Q000628:therapy; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology / Q000628:therapy; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008875:Middle Aged; D000077153:Progranulins; D011498:Protein Precursors / Q000235:genetics*
C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins; D011498:Protein Precursors