Decreased diffusivity in the caudate nucleus of presymptomatic huntington disease gene carriers: which explanation?
OBJECTIVE
The neostriatum is known to be affected in HD. In this work, our aim was to determine whether microstructural and volumetric alterations occur in the neostriatum of presymptomatic HD gene carriers and in patients with early-stage HD.


METHODS
We studied a group of 15 presymptomatic gene carriers who were far from the estimated symptom onset (16% probability of developing the disease within 5 years), a group of 9 patients with early symptomatic HD, and 2 groups of age-matched controls. Volumetric MR imaging and DWIs were acquired, and statistical analyses were performed on the volumes of the caudate nucleus and putamen and on the corresponding MD measurements.


RESULTS
Neostriatal volumes were significantly smaller in both presymptomatic HD gene carriers and symptomatic patients with respect to controls. However, whereas the diffusivity in the caudate nucleus was increased in the symptomatic patients, it was decreased in the presymptomatic gene carriers.


CONCLUSIONS
Altered diffusivity and reduced volume of the caudate nucleus in presymptomatic HD gene carriers indicate that the neostriatum is affected well before the onset of symptoms. The observed initial decrease and subsequent increase of MD might be related to the combined effect of increased oligodendroglial population, putatively a developmental abnormality, and incipient neurodegeneration.
Mandelli
M L
ML
Neuroradiology Department, Fondazione Istituto Nazionale Neurologico "Carlo Besta," Milan, Italy. mandelli@istituto-besta.it
Savoiardo
M
M
Minati
L
L
Mariotti
C
C
Aquino
D
D
Erbetta
A
A
Genitrini
S
S
Di Donato
S
S
Bruzzone
M G
MG
Grisoli
M
M
D000328:Adult; D002421:Caudate Nucleus / Q000473:pathology*; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D042241:Early Diagnosis; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics*; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D008297:Male; D008875:Middle Aged; D011699:Putamen / Q000473:pathology; D012016:Reference Values