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Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35

Cecilia Marelli1, Mustafa A Salih2, Karine Nguyen3

  • 1Department of Neurology University Hospital Gui de Chauliac Montpellier France.

Movement Disorders Clinical Practice
|February 5, 2019
PubMed

Insights

Mutations in the fatty-acid 2-hydroxylase (FA2H) gene cause SPG35. Cerebral iron accumulation is not a prominent feature in FA2H-associated SPG35, even in later disease stages.

Area of Science:

  • Genetics
  • Neurology
  • Neuroimaging

Background:

  • Mutations in the fatty-acid 2-hydroxylase (FA2H) gene are linked to autosomal recessive spastic paraplegia type 35 (SPG35).
  • SPG35 often presents with cerebellar ataxia and may be associated with neurodegeneration with brain iron accumulation (NBIA).
  • Cerebral iron accumulation in the basal ganglia was initially considered a key diagnostic marker for SPG35.

Observation:

  • This study investigated five novel patients from two families with FA2H gene mutations.
  • Cerebral iron accumulation was notably absent in all five patients.
  • Iron accumulation remained absent even in one patient 18 years after disease onset, confirmed by advanced MRI sequences.

Findings:

  • Cerebral iron accumulation is not a consistent or prominent feature in SPG35.
  • The presence or absence of brain iron accumulation is not strictly dependent on disease duration in SPG35.
  • Absence of iron accumulation on MRI does not rule out SPG35.

Implications:

  • The diagnostic criteria for SPG35 may need re-evaluation regarding the significance of cerebral iron accumulation.
  • Neuroimaging findings, specifically the absence of iron, should not deter clinicians from considering FA2H mutations in suspected SPG35 cases.
  • Further research is needed to understand the variability of MRI findings in SPG35 and its correlation with disease progression.
Keywords:
FA2HSPG35ataxiaautosomal recessive spastic paraplegianeurodegeneration with brain iron accumulation (NBIA)

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