Portal de investigación
Facial Onset Sensory and Motor Neuronopathy New Cases, Cognitive Changes, and Pathophysiology
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- de Boer, EMJ
- Barritt, AW
- Elamin, M
- Anderson, SJ
- Broad, R
- Nisbet, A
- Goedee, HS
- Prudlo, J
- Vedeler, CA
- Fernandez, JP
- Panades, MP
- Aguilo, MAA
- Dalla Bella, E
- Lauria, G
- Pinto, WBVR
- de Souza, PVS
- Oliveira, ASB
- Toro, C
- van Iersel, J
- Parson, M
- Harschnitz, O
- van den Berg, LH
- Veldink, JH
- Al-Chalabi, A
- Leigh, PN
- van Es, MA
Grupos
Abstract
Purpose of Review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent Findings We 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. Summary FOSMN 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.
Datos de la publicación
- ISSN/ISSNe:
- 2163-0402, 2163-0933
- Tipo:
- Review
- Páginas:
- 147-157
- PubMed:
- 33842068
- Factor de Impacto:
- 0,618 SCImago ℠
- Cuartil:
- Q3 SCImago ℠
Neurology-Clinical Practice LIPPINCOTT WILLIAMS & WILKINS
Citas Recibidas en Web of Science: 23
Documentos
- No hay documentos
Filiaciones
Keywords
- AMYOTROPHIC-LATERAL-SCLEROSIS; FOSMN SYNDROME; DISEASE; PATHOLOGY; PATIENT; BRAIN
Cita
de Boer E,Barritt AW,Elamin M,Anderson SJ,Broad R,Nisbet A,Goedee HS,Costa JFV,Prudlo J,Vedeler CA,Fernandez JP,Panades MP,Aguilo M,Dalla E,Lauria G,Pinto WBVR,de Souza PVS,Oliveira A,Toro C,van J,Parson M,Harschnitz O,van den Berg LH,Veldink JH,Al A,Leigh PN,van MA. Facial Onset Sensory and Motor Neuronopathy New Cases, Cognitive Changes, and Pathophysiology. Neurol.-Clin. Pract. 2021. 11(2):p. 147-157.