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TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.
Picher-Martel, Vincent; Babu, Suma; Amato, Anthony A.
Afiliación
  • Picher-Martel V; From the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.
  • Babu S; From the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.
  • Amato AA; From the Department of Neurology (V.P.-M.), Massachusetts General Hospital/Harvard Medical School; Department of Neurology (V.P.-M.), MassGeneral Institute for Neurodegenerative Diseases (MIND); Department of Neurology (S.B.), Massachusetts General Hospital; Department of Neurology (A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.
Neurol Genet ; 10(3): e200160, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38841627
ABSTRACT

Objectives:

Facial-onset sensory and motor neuronopathy (FOSMN) is a rare neuromuscular disorder characterized by progressive facial sensory impairment followed by motor dysfunction in a rostro-caudal distribution. FOSMN is clinically and pathologically associated with amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). In contrast to ALS/FTD, the genetic profile of patients with FOSMN and the role of genetic testing are poorly defined.

Methods:

A 66-year-old woman was evaluated in our neuromuscular clinic for progressive facial pain, dysphagia, and dysarthria. Her diagnostic evaluation included brain and cervical MRI, nerve conduction studies and EMG, and an ALS/FTD next-generation sequencing panel.

Results:

The patient was diagnosed with FOSMN, and we identified a N390D variant in transactive response DNA-binding protein (TDP-43/TARDBP). This variant has never been reported in FOSMN but was previously reported in 2 cases of ALS, and a N390S variant was also previously reported in FOSMN. A review of the literature revealed that TARDBP mutations are overrepresented in patients with FOSMN compared with patients with ALS/FTD. By contrast, other common familial forms of ALS, including C9ORF72 or SOD1, are respectively absent or rare in FOSMN.

Discussion:

FOSMN is pathologically and genetically associated with TDP-43. Therefore, ALS genetic testing that includes specifically TARDBP should be considered in patients with FOSMN.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos