Axonal dystrophies

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The Neuroaxonal Dystrophies (NADs) are a group of clinically and genetically heterogeneous neurodegenerative conditions. These disorders show the unique pathological feature of neuroaxonal dystrophy (NAD): axonal swelling (spheroids) localized throughout the central nervous and peripheral nervous systems. NADs are also morphologically characterized by iron accumulation in the basal ganglia; and are now included in the group of diseases called neurodegeneration with brain iron accumulation (NBIA).NADs comprise two main diseases: pantothenate-kinase associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD).PKAN in caused by mutation in the PANK-2 gene. In classic PKAN onset of disease is in the first decade and patients show dystonia, rigidity and dysarthria; course is progressive leading to loss of autonomous gait within 15 years. In atypical PKAN age at onset is later and progression slower. Psychiatric symptoms, obsessive-compulsive disorder, and tourettism may be prominent.In classic INAD patients present with psychomotor regression between 6 months-3 years, followed by neurological deterioration leading to tetraparesis, optic atrophy, and dementia. Atypical NAD refers to all patients who differ from the classical phenotype in term of age at onset and disease progression. Mutations in PLA2G6 gene are found both in classic and atypical INAD patients.

Original languageEnglish
Pages (from-to)1919-1924
Number of pages6
JournalHandbook of Clinical Neurology
Publication statusPublished - 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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