Axonal dystrophies

Research output: Contribution to journalArticle

Abstract

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
Volume113
DOIs
Publication statusPublished - 2013

Fingerprint

Neuroaxonal Dystrophies
Pantothenate Kinase-Associated Neurodegeneration
Age of Onset
Optic Atrophy
Dysarthria
Mutation
Dystonia
Obsessive-Compulsive Disorder
Peripheral Nervous System
Basal Ganglia
Gait
Genes
Psychiatry
Dementia
Disease Progression
Iron
Phenotype

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Axonal dystrophies. / Nardocci, Nardo; Zorzi, Giovanna.

In: Handbook of Clinical Neurology, Vol. 113, 2013, p. 1919-1924.

Research output: Contribution to journalArticle

@article{c99cad988ad2412eb9cc3d39882b96dd,
title = "Axonal dystrophies",
abstract = "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.",
author = "Nardo Nardocci and Giovanna Zorzi",
year = "2013",
doi = "10.1016/B978-0-444-59565-2.00062-9",
language = "English",
volume = "113",
pages = "1919--1924",
journal = "Handbook of Clinical Neurology",
issn = "0072-9752",
publisher = "Elsevier",

}

TY - JOUR

T1 - Axonal dystrophies

AU - Nardocci, Nardo

AU - Zorzi, Giovanna

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84876824034&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84876824034&partnerID=8YFLogxK

U2 - 10.1016/B978-0-444-59565-2.00062-9

DO - 10.1016/B978-0-444-59565-2.00062-9

M3 - Article

C2 - 23622415

AN - SCOPUS:84876824034

VL - 113

SP - 1919

EP - 1924

JO - Handbook of Clinical Neurology

JF - Handbook of Clinical Neurology

SN - 0072-9752

ER -