TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome: An autopsied case report and a review of the literature

Keita Sonoda, Kensuke Sasaki, Takahisa Tateishi, Ryo Yamasaki, Shintaro Hayashi, Nobutaka Sakae, Yasumasa Ohyagi, Toru Iwaki, Jun Ichi Kira

Research output: Contribution to journalArticle

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Abstract

We report an autopsy case of a 48-year-old female clinically diagnosed with facial-onset sensory and motor neuronopathy (FOSMN) syndrome with TAR DNA-binding protein 43 (TDP-43) pathology. She developed paresthesia involving her whole face, right upper extremity and the right side of her upper trunk, followed by dysphagia, dysarthria, muscle atrophy and weakness with fasciculation in both upper extremities. Her symptoms showed a marked cranial and right-sided dominancy. She had anti-sulfoglucuronyl paragloboside (SGPG) IgG and anti-myelin-associated glycoprotein (MAG) IgG, and repeatedly showed limited response to immunotherapies. Her disease was essentially progressive, culminating in death due to respiratory failure three and a half years after onset. The autopsy revealed severe degeneration of the nuclei of the right trigeminal nerve and right facial nerve and widespread TDP-43-positive glial inclusions in the brainstem tegmentum. Neurons in the hypoglossal nerve nuclei were also shrunken and lost, with TDP-43-positive neuronal inclusions. Neuronal loss and gliosis in the anterior horn, predominantly in the cervical cord, were prominent with TDP-43-positive skein-like inclusions. Bilateral ventral roots were obviously atrophic. Spinal tract degeneration was also prominent in the ventral columns, essentially sparing the anterior corticospinal tracts at the cervical cord level. Additionally there was severe myelin pallor in the right spinal trigeminal tract and right fasciculus cuneatus of the cervical cord. The right spinal root ganglion showed numerous Nageotte's nodules and focal lymphocytic infiltration. The present case manifested FOSMN syndrome clinically, while the pathological findings suggested a motor neuron disease like TDP-43 proteinopathy and a possible involvement of immune-mediated neuropathy.

Original languageEnglish
Pages (from-to)148-153
Number of pages6
JournalJournal of the Neurological Sciences
Volume332
Issue number1-2
DOIs
Publication statusPublished - Sep 15 2013

Fingerprint

DNA-Binding Proteins
Pathology
Spinal Nerve Roots
Upper Extremity
Autopsy
Myelin-Associated Glycoprotein
Hypoglossal Nerve
Fasciculation
Pallor
Dysarthria
Motor Neuron Disease
Pyramidal Tracts
Trigeminal Nerve
Gliosis
Muscular Atrophy
Paresthesia
Muscle Weakness
Facial Nerve
Spinal Ganglia
Horns

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

TAR DNA-binding protein 43 pathology in a case clinically diagnosed with facial-onset sensory and motor neuronopathy syndrome : An autopsied case report and a review of the literature. / Sonoda, Keita; Sasaki, Kensuke; Tateishi, Takahisa; Yamasaki, Ryo; Hayashi, Shintaro; Sakae, Nobutaka; Ohyagi, Yasumasa; Iwaki, Toru; Kira, Jun Ichi.

In: Journal of the Neurological Sciences, Vol. 332, No. 1-2, 15.09.2013, p. 148-153.

Research output: Contribution to journalArticle

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abstract = "We report an autopsy case of a 48-year-old female clinically diagnosed with facial-onset sensory and motor neuronopathy (FOSMN) syndrome with TAR DNA-binding protein 43 (TDP-43) pathology. She developed paresthesia involving her whole face, right upper extremity and the right side of her upper trunk, followed by dysphagia, dysarthria, muscle atrophy and weakness with fasciculation in both upper extremities. Her symptoms showed a marked cranial and right-sided dominancy. She had anti-sulfoglucuronyl paragloboside (SGPG) IgG and anti-myelin-associated glycoprotein (MAG) IgG, and repeatedly showed limited response to immunotherapies. Her disease was essentially progressive, culminating in death due to respiratory failure three and a half years after onset. The autopsy revealed severe degeneration of the nuclei of the right trigeminal nerve and right facial nerve and widespread TDP-43-positive glial inclusions in the brainstem tegmentum. Neurons in the hypoglossal nerve nuclei were also shrunken and lost, with TDP-43-positive neuronal inclusions. Neuronal loss and gliosis in the anterior horn, predominantly in the cervical cord, were prominent with TDP-43-positive skein-like inclusions. Bilateral ventral roots were obviously atrophic. Spinal tract degeneration was also prominent in the ventral columns, essentially sparing the anterior corticospinal tracts at the cervical cord level. Additionally there was severe myelin pallor in the right spinal trigeminal tract and right fasciculus cuneatus of the cervical cord. The right spinal root ganglion showed numerous Nageotte's nodules and focal lymphocytic infiltration. The present case manifested FOSMN syndrome clinically, while the pathological findings suggested a motor neuron disease like TDP-43 proteinopathy and a possible involvement of immune-mediated neuropathy.",
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