Pathophysiology and Treatment of Neurodegeneration with Brain Iron Accumulation in the Pediatric Population

Susanne A. Schneider, Giovanna Zorzi, Nardo Nardocci

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Opinion statement: Syndromes of neurodegeneration with brain iron accumulation (NBIA) are characterized by increased iron deposition in the basal ganglia leading to complex progressive neurological symptoms. Several genetically distinct subforms have been recognized. In addition to pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), further genetic causes continue to be identified. Most of these present in childhood and are inherited following an autosomal recessive trait. However, the clinical and pathological spectrum has broadened and new age-dependent presentations have been described and there is overlap between the different NBIA disorders and with other diseases (such as spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis). Thus, additional clinical information (e.g., radiological findings such as precise patters of deposition of iron or co-occurrence of white matter lesions) may be useful when prioritizing genetic screening. Neuropathological work-up demonstrated variable involvement of iron deposition, but also Lewy bodies, neurofibrillary tangles and spheroid bodies. Treatment remains symptomatic. Here we review characteristic features of NBIA syndromes with a focus on pediatric cases.

Original languageEnglish
Pages (from-to)652-667
Number of pages16
JournalCurrent Treatment Options in Neurology
Volume15
Issue number5
DOIs
Publication statusPublished - Oct 2013

Fingerprint

Iron
Pediatrics
Neuroaxonal Dystrophies
Pantothenate Kinase-Associated Neurodegeneration
Neuronal Ceroid-Lipofuscinoses
Population
Lewy Bodies
Neurofibrillary Tangles
Paraplegia
Genetic Testing
Basal Ganglia
Therapeutics
Neurodegeneration with brain iron accumulation (NBIA)
White Matter

Keywords

  • Brain iron accumulation
  • Ceramide
  • Dystonia
  • Iron
  • Iron chelator
  • MPAN
  • NBIA
  • Neurodegeneration
  • Pediatric
  • PKAN
  • PLA2G6
  • Treatment

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Pathophysiology and Treatment of Neurodegeneration with Brain Iron Accumulation in the Pediatric Population. / Schneider, Susanne A.; Zorzi, Giovanna; Nardocci, Nardo.

In: Current Treatment Options in Neurology, Vol. 15, No. 5, 10.2013, p. 652-667.

Research output: Contribution to journalArticle

@article{d68fde2600e5439280929e69185539c6,
title = "Pathophysiology and Treatment of Neurodegeneration with Brain Iron Accumulation in the Pediatric Population",
abstract = "Opinion statement: Syndromes of neurodegeneration with brain iron accumulation (NBIA) are characterized by increased iron deposition in the basal ganglia leading to complex progressive neurological symptoms. Several genetically distinct subforms have been recognized. In addition to pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), further genetic causes continue to be identified. Most of these present in childhood and are inherited following an autosomal recessive trait. However, the clinical and pathological spectrum has broadened and new age-dependent presentations have been described and there is overlap between the different NBIA disorders and with other diseases (such as spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis). Thus, additional clinical information (e.g., radiological findings such as precise patters of deposition of iron or co-occurrence of white matter lesions) may be useful when prioritizing genetic screening. Neuropathological work-up demonstrated variable involvement of iron deposition, but also Lewy bodies, neurofibrillary tangles and spheroid bodies. Treatment remains symptomatic. Here we review characteristic features of NBIA syndromes with a focus on pediatric cases.",
keywords = "Brain iron accumulation, Ceramide, Dystonia, Iron, Iron chelator, MPAN, NBIA, Neurodegeneration, Pediatric, PKAN, PLA2G6, Treatment",
author = "Schneider, {Susanne A.} and Giovanna Zorzi and Nardo Nardocci",
year = "2013",
month = "10",
doi = "10.1007/s11940-013-0254-5",
language = "English",
volume = "15",
pages = "652--667",
journal = "Current Treatment Options in Neurology",
issn = "1092-8480",
publisher = "Current Science, Inc.",
number = "5",

}

TY - JOUR

T1 - Pathophysiology and Treatment of Neurodegeneration with Brain Iron Accumulation in the Pediatric Population

AU - Schneider, Susanne A.

AU - Zorzi, Giovanna

AU - Nardocci, Nardo

PY - 2013/10

Y1 - 2013/10

N2 - Opinion statement: Syndromes of neurodegeneration with brain iron accumulation (NBIA) are characterized by increased iron deposition in the basal ganglia leading to complex progressive neurological symptoms. Several genetically distinct subforms have been recognized. In addition to pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), further genetic causes continue to be identified. Most of these present in childhood and are inherited following an autosomal recessive trait. However, the clinical and pathological spectrum has broadened and new age-dependent presentations have been described and there is overlap between the different NBIA disorders and with other diseases (such as spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis). Thus, additional clinical information (e.g., radiological findings such as precise patters of deposition of iron or co-occurrence of white matter lesions) may be useful when prioritizing genetic screening. Neuropathological work-up demonstrated variable involvement of iron deposition, but also Lewy bodies, neurofibrillary tangles and spheroid bodies. Treatment remains symptomatic. Here we review characteristic features of NBIA syndromes with a focus on pediatric cases.

AB - Opinion statement: Syndromes of neurodegeneration with brain iron accumulation (NBIA) are characterized by increased iron deposition in the basal ganglia leading to complex progressive neurological symptoms. Several genetically distinct subforms have been recognized. In addition to pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), further genetic causes continue to be identified. Most of these present in childhood and are inherited following an autosomal recessive trait. However, the clinical and pathological spectrum has broadened and new age-dependent presentations have been described and there is overlap between the different NBIA disorders and with other diseases (such as spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis). Thus, additional clinical information (e.g., radiological findings such as precise patters of deposition of iron or co-occurrence of white matter lesions) may be useful when prioritizing genetic screening. Neuropathological work-up demonstrated variable involvement of iron deposition, but also Lewy bodies, neurofibrillary tangles and spheroid bodies. Treatment remains symptomatic. Here we review characteristic features of NBIA syndromes with a focus on pediatric cases.

KW - Brain iron accumulation

KW - Ceramide

KW - Dystonia

KW - Iron

KW - Iron chelator

KW - MPAN

KW - NBIA

KW - Neurodegeneration

KW - Pediatric

KW - PKAN

KW - PLA2G6

KW - Treatment

UR - http://www.scopus.com/inward/record.url?scp=84885187866&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84885187866&partnerID=8YFLogxK

U2 - 10.1007/s11940-013-0254-5

DO - 10.1007/s11940-013-0254-5

M3 - Article

C2 - 23888388

AN - SCOPUS:84885187866

VL - 15

SP - 652

EP - 667

JO - Current Treatment Options in Neurology

JF - Current Treatment Options in Neurology

SN - 1092-8480

IS - 5

ER -