Differential trigeminal myelinated and unmyelinated nerve fiber involvement in FOSMN syndrome

Truini, Andrea; Provitera, Vincenzo; Biasiotta, A.; Stancanelli, Annamaria; Antonini, Giovanni; Santoro, Lucio; Cruccu, G.; Nolano, Maria

doi:10.1212/wnl.0000000000001216

Cited by 15 publications

(13 citation statements)

References 7 publications

(7 reference statements)

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“…Therefore, we consider bulbar involvement one of the most life-threatening factors in FOSMN, along with respiratory failure, as seen in Patient 2. According to a survey of the literature that does not include the present cases, nine patients died an average of 3.4 years after symptom onset; the identified causes of death were aspiration pneumonia and/or respiratory insufficiency (Barca et al, 2013;Broad & Leigh, 2015;Fluchere et al, 2011;Truini et al, 2015;Vucic et al, 2006;Ziso et al, 2015).…”

Section: Diagnosis and Treatmentmentioning

confidence: 97%

“…FOSMN is a developing disease without clearly established diagnostic criteria. We chose the inclusion criteria in this study on the basis of previously reported clinical features of patients with FOSMN ( Barca et al, 2013;Broad & Leigh, 2015;Cruccu et al, 2014;Dalla Bella et al, 2014Dobrev et al, 2012;Fluchere et al, 2011;Hokonohara et al, 2008;Isoardo & Troni, 2008;Karakis et al, 2014;Knopp et al, 2013;Sonoda et al, 2013;Truini et al, 2015;Vucic et al, 2006Vucic et al, , 2012Ziso et al, 2015). Moreover, we consecutively enrolled all patients who fulfilled the criteria in the present study.…”

Section: Fosmnmentioning

confidence: 99%

“…Its cardinal features are initial asymmetrical facial paresthesia and/or sensory deficits followed by bulbar symptoms and spreading of sensory and motor deficits from the face to the scalp, neck, upper trunk, and upper extremities in a rostral-caudal direction. FOSMN is a rare disorder, with only 40-50 reported cases; the exact number of patients is unclear because some reported cases may be overlapping (Barca et al, 2013;Broad & Leigh, 2015;Cruccu et al, 2014;Dalla Bella et al, 2014Dobrev et al, 2012;Fluchere et al, 2011;Hokonohara et al, 2008;Isoardo & Troni, 2008;Karakis, Vucic, & Srinivasan, 2014;Knopp, Vaghela, Shanmugam, & Rajabally, 2013;Sonoda et al, 2013;Truini et al, 2015;Vucic et al, 2006Vucic et al, , 2012Ziso et al, 2015). FOSMN is regarded as a neurodegenerative condition with close links to amyotrophic lateral sclerosis (ALS) (Zheng, Chu, Tan, & Zhang, 2016).…”

Section: Introductionmentioning

confidence: 99%

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Oral phase dysphagia in facial onset sensory and motor neuronopathy

et al. 2018

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IntroductionFacial onset motor and sensory neuronopathy (FOSMN) is a rare disease whose cardinal features are initial asymmetrical facial sensory deficits followed by bulbar symptoms and spreading of sensory and motor deficits from face to scalp, neck, upper trunk, and upper extremities in a rostral–caudal direction. Although bulbar involvement is frequently observed in FOSMN, dysphagia in these patients has not been fully described. In this study, we aimed to characterize dysphagia as a prognostic factor in FOSMN by investigating our institutional case series.MethodsWe retrospectively reviewed the medical records, including swallowing function tests, of six patients with FOSMN (three men and three women) who were thoroughly examined at Kyushu University Hospital between 1 January 2005 and 30 November 2017.ResultsAverage age at onset was 58.5 years; average disease duration was 5.7 years. All patients developed bulbar dysfunction and dysphagia (at an average of 1.8 and 2.6 years from onset, respectively), resulting in choking episodes in three patients, percutaneous endoscopic gastrostomy placement in three, and recurrent aspiration pneumonia in one. Four of five patients evaluated with videofluoroscopic swallowing studies had poor oral retention, leading to bolus flowing into the pharynx before swallowing; the fifth patient showed poor lingual transfer. Fiberoptic endoscopic evaluation of swallowing revealed leakage of blue‐dyed water from the mouth to the pharynx in three patients because of poor oral retention, but only mild pharyngeal phase dysphagia in all four cases evaluated.ConclusionsOral phase dysphagia predominates in the early stage of FOSMN.

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Section: Diagnosis and Treatmentmentioning

confidence: 97%

Section: Fosmnmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Oral phase dysphagia in facial onset sensory and motor neuronopathy

et al. 2018

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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%

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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Facial onset sensory and motor neuronopathy

et al. 2016

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Facial onset sensory and motor neuronopathy (FOSMN) is a recently defined slowly progressive motor neuron disorder. It is characterized by facial onset sensory abnormalities which may spread to the scalp, neck, upper trunk and extremities, followed by lower motor neuron deficits. Bulbar symptoms, such as dysarthria and dysphagia, muscle weakness, cramps and fasciculations, can present later in the course of the disease. We search the PubMed database for articles published in English from 2006 to 2016 using the term of "Facial onset sensory and motor neuronopathy". Reference lists of the identified articles were selected and reviewed. Only 38 cases of FOSMN have been reported in the Pubmed database since it was first reported in 2006. Typically, FOSMN present with slowly evolving numbness of the face followed by neck and arm weakness. Reduced or absent of corneal reflexes and blink reflex is the main pathognomonic features of FOSMN. In this review, we summarize the epidemiology, clinical presentation, auxiliary examination, and treatment of all the reported cases of FOSMN. Moreover, we discuss the pathogenesis of this rare disorder. In addition, we propose diagnostic criteria for FOSMN.

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Differential trigeminal myelinated and unmyelinated nerve fiber involvement in FOSMN syndrome

Cited by 15 publications

References 7 publications

Oral phase dysphagia in facial onset sensory and motor neuronopathy

Oral phase dysphagia in facial onset sensory and motor neuronopathy

Facial Onset Sensory and Motor Neuronopathy

Facial onset sensory and motor neuronopathy

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