A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

Katsuya Nishida, Holly J. Garringer, Naonobu Futamura, Itaru Funakawa, Kenji Jinnai, Ruben Vidal, Masaki Takao

Research output: Contribution to journalArticle

13 Scopus citations


Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropathologically, the disease is characterized by abnormal iron and ferritin depositions in the central nervous system. We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal tract signs, and psychiatric symptoms. In the absence of classic clinical symptoms, the initial diagnosis of the disease was based on magnetic resonance imaging studies. Biochemical studies on the proband showed normal serum ferritin levels, but remarkably low cerebrospinal fluid (CSF) ferritin levels. A novel FTL mutation was identified in the proband. Our findings expand the genetic and clinical diversity of neuroferritinopathy and suggest CSF ferritin levels as a novel potential biochemical marker for the diagnosis of neuroferritinopathy.

Original languageEnglish (US)
Pages (from-to)173-177
Number of pages5
JournalJournal of the Neurological Sciences
Issue number1-2
StatePublished - Jul 15 2014


  • Brain
  • Ferritin
  • Hereditary ferritinopathy
  • Iron
  • Neurodegeneration

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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