Sporadic Fatal Insomnia in a Fatal Familial Insomnia Pedigree

Capellari, Sabina; Parchi, Piero; Cortelli, Pietro; Avoni, Patrizia; Casadei, Gianpiero; Bini, Carla; Baruzzi, Agostino; Lugaresi, E; Pocchiari, Maurizio; Gambetti, Pierluigi; Montagna, Pasquale

doi:10.1212/01.wnl.0000287140.94379.52

Cited by 18 publications

(19 citation statements)

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“…However, FI characteristically has a slower progression, with about five months of progressive sleep decrease and behavioral and psychiatric changes before the patient presents with total insomnia [1,[9][10][11][12] and usually other motor abnormalities develop with disease progression including myoclonus, ataxia, pyramidal signs, dysarthria and dysphagia [7]. Seizures may occur in both conditions [4,5,13].…”

Section: Discussionmentioning

confidence: 99%

“…While FI currently has no treatment, presenting a fatal disclosure after 13 to 73 months [1,[10][11][12], anti-NMDAR encephalitis is treatable, with about 75 to 81% of patients presenting significant improvement after treatment [4,5,27]. First-line treatment consists of immunotherapy (corticosteroids, IVIG and/or PE) and, when an associated neoplasm is found, tumor removal [4,6,27].…”

Section: Discussionmentioning

confidence: 99%

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Anti-NMDA receptor encephalitis presenting with total insomnia — A case report

Marques

Teotónio

Cunha

et al. 2014

Journal of the Neurological Sciences

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Fatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement abnormalities. We report the case of a 30 year-old male patient who presented with total insomnia followed by episodes of psychomotor restlessness resembling anxiety attacks. Twenty days later, he developed refractory convulsive status epilepticus with admission to Intensive Care Unit. He progressed to a state of reduced alertness and responsiveness, presenting periods of agitation with abnormal dyskinetic movements, periods of autonomic instability and central hypoventilation. Workup revealed antibodies against N-methyl-D-aspartate receptor (NMDAR). Immunotherapy treatment led to a very significant improvement with the patient presenting only slight frontal lobe dysfunction after one year of recovery. To the best of our knowledge this is the first report of a patient with anti-NMDAR encephalitis first presenting with total insomnia. Our aim is to alert that anti-NMDAR encephalitis must be considered in the differential diagnosis of FI, especially in sporadic cases. Distinguishing the two conditions is very important as, contrarily to the fatal disclosure of FI, anti-NMDAR encephalitis is potentially reversible with adequate treatment even after severe and prolonged disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Anti-NMDA receptor encephalitis presenting with total insomnia — A case report

Marques

Teotónio

Cunha

et al. 2014

Journal of the Neurological Sciences

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“…204,[264][265][266][267][268][269] In contrast to fCJD and GSS, which can each be caused by multiple PRNP mutations, the only genotype associated with FFI is a D178N mutation combined with a 129 M polymorphism in cis. 42 When the D178N mutation is linked to the 129 V polymorphism, fCJD is observed.…”

Section: Fatal Insomnia (Fi)mentioning

confidence: 99%

Prion Diseases

Mastrianni

2015

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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“…A possible example for that is the description of apparently sporadic fatal insomnia in a fatal familial insomnia pedigree. 11 The occurrence of families such as the one reported here may help identify such non-PRNP genes, thereby broadening our understanding of prion pathogenesis and, ideally, delivering additional therapeutic targets.…”

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confidence: 85%