Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia

Abstract

We conducted a French multicentric cross-sectional study to describe in detail the demographic, neurological and behavioural characteristics of the frontal variant of frontotemporal dementia (fvFTD) and to characterize the pattern of brain perfusion SPECT in comparison to a healthy control group. A total of 68 fvFTD patients had technetium-99m-ECD brain perfusion SPECT at inclusion, 61 of which also underwent an in-depth evaluation including 70 items assessing behaviour, language and affect/emotion at onset and at inclusion. The mean age-at-onset was 60.4 +/- 7.8 years (35-75). Twenty-six per cent of the patients were older than 65 at onset. A positive familial history consistent with an autosomal dominant inheritance was found in 18% of the patients. At onset, the behavioural profile was predominantly inert in 25% of the patients, disinhibited in 18% and mixed in others. The behavioural features progressed to predominantly mixed or inert forms. Although, inertia was associated with predominant medial frontal and cingulate hypoperfusion, and patients with disinhibition exhibited predominant ventromedial prefrontal and temporal hypoperfusion, there were no major clinical differences between disinhibited and inert patients. Forty-five per cent of the deceased patients survived <6 years (short survival), and 34% of the patients survived >8 years (long survival). This shows that the final outcome of fvFTD is highly variable. No clinical factors predictive of short or long survival were identified. Unexpected, however, was the finding that brainstem hypoperfusion distinguished patients with a short survival from patients with long survival. In conclusion, this study shows that fvFTD is clinically a rather homogeneous entity. It also provides evidence that different behavioural presentations at onset are related to different anatomical localizations of degenerative damage. Finally, it demonstrates the prognostic value of brainstem hypoperfusion in a subgroup of patients with a short survival.

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia

“…For the French series, DNA samples from 196 index patients with FTD were collected through a French research network of neurologists [Le Ber et al, 2006]. The diagnosis of FTD was based on the Lund and Manchester criteria as described [The Lund and Manchester Groups, 1994;Le Ber et al, 2007].…”

Apathy and disinhibition in frontotemporal dementia

“…12,13 In FTD, two distinct behavioral profiles have been reported. 14,15 Some patients predominantly present with apathy, inertia, and loss of volition. Usually the presence of the caregiver is necessary to push them to initiate even simple tasks.…”

“…15 Despite the general importance of behavioral symptoms in FTD, few studies have specifically focused on the neural correlates of the apathetic and disinhibited profiles. 14,16,17 Patients were usually divided in two groups based on the clinical judgment of examiners or on single sub-items of the Neuropsychiatric Inventory (NPI). 18 But the comparison between groups does not take into account the overlap between the two behavioral abnormalities that may occur as atrophy expands.…”

Evaluation of methylation status of the 5’-promoter region of C9orf72 gene in Russian patients with neurodegenerative diseases

“…Вариации клинической картины среди подти-пов объясняются различиями областей головного мозга, вовлеченных в патологический процесс. До 40 % случаев ЛВД имеют положительный семей-ный анамнез, аутосомно-доминантный тип наследо-вания наблюдается примерно в 10-25 % случаев [6]. При этом именно семейные случаи ЛВД имеют ассо-циацию с болезнью двигательного нейрона.…”