Elevated CSF neurofilament light chain concentration in a patient with facial onset sensory and motor neuronopathy

Lange, Kristin Sophie; Maier, André; Leithner, Christoph

doi:10.1007/s10072-019-04033-9

Cited by 4 publications

(4 citation statements)

References 9 publications

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“…Our literature search yielded 26 full-text articles reporting on a total of 64 patients with FOSMN, of which 29 were not described in a review before. 1,[3][4][5][6][7][8][9][10][11][12][13][14][15][16][18][19][20][21][22][23][24] We further identified 7 abstracts/posters/ supplements reporting on 11 potential cases and 2 articles mentioning 10 FOSMN cases without further patient characteristics. 25,26 After reaching out to the corresponding authors, we received a detailed poster on 7 patients with FOSMN.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

“…Sleeping problems were described in 2 cases; case 9 had signs suggesting REM sleep behavioral disorder, and in case 1, 13 this was confirmed by polysomnography. (Pseudo) choreoathetosis, was seen in 6 patients (cases 21,22,25,26,27, and a literature patient who was followed up on). 16 Ninety-seven percent of the patients developed bulbar symptoms.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

“…16 Ninety-seven percent of the patients developed bulbar symptoms. 1,[3][4][5][6][7][8][9][10][11]13,14,[16][17][18][19][20][21][22][23] Weight loss resulting from dysphagia in FOSMN may be severe, and in 34 cases, gastrostomy was indicated. 1,3,4,7,8,10,11,13,14,[16][17][18][19]23 The mean disease duration before placement was 5 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14) years after onset of the symptoms.…”

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

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Facial Onset Sensory and Motor Neuronopathy

et al. 2021

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Purpose of reviewTo improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).Recent findingsWe identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases.SummaryFOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis–FTD spectrum.

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Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

Section: Updated Case Series and Clinical Findingsmentioning

confidence: 99%

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Facial Onset Sensory and Motor Neuronopathy

et al. 2021

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“…1,[3][4][5][6] Since its initial discovery in 2006, there have been a total of 52 cases of FOSMN documented in the literature. 1,[3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Each case describes the progression of disease beyond the craniofacial region, leading to sensory and/or motor dysfunction of the neck, shoulder, torso, back, upper limbs, lower limbs, or a combination thereof. Herein, we describe a case of a FOSMN-like syndrome that has characteristics of FOSMN yet is confined to the craniofacial region.…”

Section: Introductionmentioning

confidence: 99%

Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report

Bruss

Venkataraman

Mozaffar

2022

Journal of Clinical Neuromuscular Disease

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Objectives:Facial onset sensory and motor neuronopathy syndrome (FOSMN) is a rare motor neuron disorder characterized by facial sensory and motor aberrations that progress to the upper limbs. We present a case of FOSMN-like syndrome that has characteristics of FOSMN but is confined to the craniofacial region. Methods:Retrospective chart review and review of the literature. Results:A 70-year-old woman presented with a 1-month history of progressive bilateral facial sensory loss and weakness affecting the trigeminal and hypoglossal nerves. Within 12 months, she developed debilitating weakness affecting her lower and midface bilaterally. After an extensive workup, a diagnosis of FOSMN-like syndrome was made, as symptoms failed to progress to the upper extremities. Conclusions:This case demonstrates a unique presentation of FOSMN that we classify as FOSMN-like syndrome. Clinicians must maintain a high index of suspicion when a patient presents with clinical features characteristic of FOSMN syndrome without progression of symptoms distal to the craniofacial region because it may represent a FOSMN-like syndrome.

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Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review

Zhang

Yang

et al. 2023

Neurol Sci

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Elevated CSF neurofilament light chain concentration in a patient with facial onset sensory and motor neuronopathy

Cited by 4 publications

References 9 publications

Facial Onset Sensory and Motor Neuronopathy

Facial Onset Sensory and Motor Neuronopathy

Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report

Facial onset sensory and motor neuronopathy (FOSMN syndrome): Cases series and systematic review

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