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SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

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SYNE1 deficiency can cause early-onset motor neuron disease, not just cerebellar ataxia. This study identifies new phenotypes in juvenile amyotrophic lateral sclerosis (ALS) patients with SYNE1 variants, expanding the disease spectrum.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Syne1 (Synaptic Nuclear Envelope 1) deficiency typically presents as adult-onset cerebellar ataxia.
  • The phenotypic spectrum of SYNE1 deficiency is broad but often involves cerebellar dysfunction.
  • Previous research has primarily linked SYNE1 mutations to ataxia.

Purpose of the Study:

  • To describe the clinical and genetic findings in two families with early-onset motor neuron disease.
  • To expand the known phenotypic spectrum of SYNE1 deficiency.
  • To investigate SYNE1 variants in juvenile amyotrophic lateral sclerosis (ALS).

Main Methods:

  • Detailed clinical assessments were performed on affected individuals.
  • Neurophysiologic studies were conducted to evaluate nerve and muscle function.
  • Whole-exome sequencing was used to identify genetic variants in SYNE1.

Main Results:

  • Two families with juvenile ALS and biallelic SYNE1 variants were identified.
  • Patients exhibited early-onset motor neuron dysfunction with minimal to no cerebellar signs.
  • Genetic analysis revealed truncating variants in SYNE1, including a novel splice-site variant.

Conclusions:

  • SYNE1 deficiency can manifest as early-onset motor neuron disease without significant cerebellar involvement.
  • This broadens the understanding of SYNE1-related neurodegenerative disorders.
  • SYNE1 should be considered in genetic testing for juvenile ALS and motor neuron diseases.