Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies

Abstract

We report a rare case of fatal familial insomnia in a 58-year-old man who initially developed parkinsonism, secondary dementia, and visual hallucinations that were suspected to be due to dementia with Lewy bodies. We evaluated the function of the striatum via dopamine transporter single-photon emission computed tomography (DAT SPECT) using 123I-ioflupane and found marked presynaptic dopamine dysfunction in the bilateral striatum. This is the first reported case in which the initial symptom of fatal familial insomnia was parkinsonism and in which the dopamine transporter function was evaluated by DAT SPECT.

Sporadic Fatal Insomnia Presenting with Initial Symptoms of Parkinsonism and Abnormal Dopamine Transporter Imaging

“…4 This case highlights that sFI may cause symptoms of parkinsonism 1 with gait disturbances and extrapyramidal symptoms as the initial symptoms. 5 sFI may also cause reduced dopamine transporter binding, which has not previously been shown in sFI but is described in 1 case of FFI. 5 The affection of dopamine transporter binding is surprising as no Lewy bodies were observed and α-synuclein staining was negative.…”

“…5 sFI may also cause reduced dopamine transporter binding, which has not previously been shown in sFI but is described in 1 case of FFI. 5 The affection of dopamine transporter binding is surprising as no Lewy bodies were observed and α-synuclein staining was negative.…”

Genetic counseling for prion disease: Updates and best practices

“…Though most cases of prion disease converge toward progressive dementia, akinetic mutism, and ultimately, terminal illness, early symptoms vary widely in a manner not faithfully predicted by genotype. Diverse presentations have been reported not only within variants [15][16][17][18][19][20][21] but even within the same affected family 13,22,23 and between affected monozygotic twins. [24][25][26] However, despite its erosion over time, it is useful to be aware of the classical genotype-phenotype correlation (Table 1).…”

Prion diseases: fatal familial insomnia

“…Często u chorych występuje agrypnia excitata, czyli bezsenność z towarzyszącym jej pobudzeniem (niespokojne ruchy kończyn, nietypowe wokalizacje, okresy bezdechu) [3]. Początkowe objawy FFI mogą być mylące i błędnie interpretowane jako parasomnia snu REM (REM sleep behavior disorder -RBD [26], otępienie z ciałami Lewy'ego (dementia with Lewy bodies -DLB) lub reakcja na stres [3,28]. Innymi symptomami mogą być zaburzenia psychiatryczne, takie jak ataki paniki, fobie, paranoja [4].…”

“…W drugim stadium, trwającym średnio 5 miesięcy, dochodzi do nasilenia wcześniejszych objawów oraz pojawienia się halucynacji wzrokowych [4]. Obserwowana jest również nadaktywność współczulnego układu nerwowego: gorączka wieczorna, nadciśnienie, wzmożona potliwość na całym ciele i łzawienie, tachykardia, hiperwentylacja, impotencja [3,26,28,29]. Może wystąpić też drastyczny spadek wagi [3].…”