Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)

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116 relevant articles (0 outcomes, 3 trials/studies) found for this Disease

Description: A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)

Also Known As:

Hallervorden-Spatz Disease; Hallervorden-Spatz Syndrome; Pigmentary Pallidal Atrophy; Degeneration, Pigmentary Pallidal; Hallervorden Spatz Disease; Hallervorden Spatz Syndrome; Neurodegeneration, Pantothenate Kinase-Associated; Pallidal Atrophy, Pigmentary; Pantothenate Kinase Associated Neurodegeneration; Pigmentary Pallidal Degeneration

Disease Context: Research Results

Nervous System Diseases: 3414

Neurodegenerative Diseases: 7363

Nervous System Heredodegenerative Disorders: 24

Pantothenate Kinase-Associated Neurodegeneration: 116

Central Nervous System Diseases: 930

Movement Disorders: 1472

Pantothenate Kinase-Associated Neurodegeneration: 116

Brain Diseases: 1120

Basal Ganglia Diseases: 181

Pantothenate Kinase-Associated Neurodegeneration: 116

Neuroaxonal Dystrophies: 83

Pantothenate Kinase-Associated Neurodegeneration: 116

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 421

Inborn Genetic Diseases: 549

Nervous System Heredodegenerative Disorders: 24

Pantothenate Kinase-Associated Neurodegeneration: 116

Related Diseases

1.	Parkinson Disease (Parkinson's Disease)
2.	Dystonia (Limb Dystonia)
3.	Syndrome
4.	Neurosyphilis (General Paresis of the Insane)
5.	Cerebral Palsy (Spastic Diplegia)

Experts

1.	Hayflick, S J: 2 articles (06/2007 - 08/2001)
2.	Gitschier, J: 2 articles (06/2007 - 08/2001)
3.	Hayflick, Susan J: 2 articles (03/2004 - 01/2004)
4.	Bertrand, Ewa: 2 articles (11/2002 - 09/2002)
5.	Benecke, R: 2 articles (01/2001 - 11/2000)
6.	Kuo, Y M: 1 article (06/2007)
7.	Fogel, Wolfgang: 1 article (12/2006)
8.	Tronnier, Volker: 1 article (12/2006)
9.	Pohle, Sabine: 1 article (12/2006)
10.	Hörtnagel, Konstanze: 1 article (12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pantothenate Kinase-Associated Neurodegeneration:

1.	Iron (Serum Iron Level)IBA 10/01/2007 - "Examination of brain at autopsy revealed iron deposition in bilateral globus pallidi, confirmed by special stains and elemental dispersion analysis by spectrometry and a diagnosis of Hallervorden- Spatz disease or NBIA was made" 10/01/2007 - "Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia" 06/01/2007 - "BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), an extremely rare autosomal recessive disorder resulting in iron accumulation in the brain, has a diverse phenotypic expression" 03/01/2007 - "BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options" 01/01/2006 - "Hallervorden-Spatz syndrome (HSS) is a heterogeneous clinicopathological disorder currently included within the broader title of neurodegeneration with brain iron accumulation (NBIA)" Order ALL the reference details at left...
2.	pantothenate kinaseIBA 04/01/2005 - "OBJECTIVE: To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS)" 08/01/2006 - "It has been postulated that all patients with pantothenate kinase 2 (PANK2) mutations causing pantothenate-kinase-associated neurodegeneration (PKAN) are associated with the 'eye-of-the-tiger' sign on MRI" 08/01/2006 - "Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings." 07/01/2005 - "We describe the case of an adult female with Hallervorden-Spatz disease (HSD), "eye-of-the-tiger" sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene" 06/01/2005 - "Here, we report a patient with classic Hallervorden-Spatz syndrome and a homozygous pantothenate kinase 2 mutation in whom the initially present eye-of-the-tiger sign vanished during the course of the disease" Order ALL the reference details at left...
3.	Baclofen FDA LinkGeneric 05/01/2004 - "Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy." 04/01/2004 - "METHODS: Seven children (aged 2-16 years) with dystonia of various aetiologies (dyskinetic cerebral palsy, pantothenate kinase-associated neurodegeneration and Aicardi-Goutières syndrome) underwent transcranial magnetic stimulation, H-reflex and flexor reflex studies before and after intrathecal injection of baclofen" Order ALL the reference details at left...
4.	FlexorIBA 04/01/2004 - "METHODS: Seven children (aged 2-16 years) with dystonia of various aetiologies (dyskinetic cerebral palsy, pantothenate kinase-associated neurodegeneration and Aicardi-Goutières syndrome) underwent transcranial magnetic stimulation, H-reflex and flexor reflex studies before and after intrathecal injection of baclofen" Order ALL the reference details at left...
5.	alpha-SynucleinIBA 08/01/2000 - "Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course." 10/01/1999 - "Widespread occurrence of alpha-synuclein/NACP-immunoreactive neuronal inclusions in juvenile and adult-onset Hallervorden-Spatz disease with Lewy bodies." 01/01/2008 - "Alpha-synuclein is a presynaptic protein which is implicated in some neurodegenerative disorders including Parkinson's disease, dementia with Lewy bodies, multiple systems atrophy, and Hallervorden-Spatz disease, and its overexpression contributes to the loss of dopaminergic neurons" 12/13/2002 - "alpha-Synuclein is one of the major components of intracellular fibrillary aggregates in the brains of a subset of neurodegenerative disorders, including Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and Hallervorden-Spatz disease, which are referred to as alpha-synucleinopathies" 07/03/2002 - "The aggregation and fibrillation of alpha-synuclein in the form of intracellular proteinaceous aggregates (Lewy bodies and Lewy neurites) have been implicated as a causative factor in this disease, as well as in several other neurodegenerative disorders, including dementia with Lewy bodies, Lewy body variant of Alzheimer's disease, multiple system atrophy and Hallervorden-Spatz disease" Order ALL the reference details at left...
6.	Dihydroxyphenylalanine (Dopa)IBA 11/01/1996 - "Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease." 08/01/2003 - "Such conditions include Wilson's disease, Hallervorden-Spatz disease (HSD), juvenile form of Huntington's disease, juvenile neuronal ceroid lipofuscinosis, early-onset Machado-Joseph disease neuroacanthocytosis, storage disorders, and variant form of dopa-response dystonias (DRD)" 04/01/2002 - "Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias." 07/01/1981 - "In the rigid form of torsion dystonia and in Hallervorden-Spatz disease reduced secretion of all catecholamines (mainly DA) and DOPA was observed, with decreased AChE activity" 03/01/2003 - "Conditions discussed in detail include idiopathic torsion dystonia, dopa-responsive dystonia, Wilson's disease, myoclonus dystonia, rapid-onset dystonia parkinsonism, neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome), mitochondrial dystonias, Niemann-Pick type C, and neuroacanthocytosis." Order ALL the reference details at left...
7.	Coenzyme A (CoA)IBA 07/01/2008 - "In humans, mutations in the PANK2 gene, the first enzyme in the CoA synthesis route, are associated with pantothenate kinase-associated neurodegeneration" 01/01/2005 - "Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase-associated neurodegeneration (PKAN)" 02/01/2003 - "We conclude that the symptoms observed in pantothenate kinase-associated neurodegeneration are caused by a deficiency of the mitochondrial isoform and postulate the existence of a complete intramitochondrial pathway for de novo synthesis of coenzyme A." 01/01/2005 - "Pantothenate kinase-associated neurodegeneration (PKAN, formerly known as Hallervorden-Spatz syndrome) is a rare but devastating neurodegenerative disorder, resulting from an inherited defect in coenzyme A biosynthesis" Order ALL the reference details at left...
8.	Retinaldehyde (Retinal)IBA 09/01/1989 - "At age 7, the diagnosis of Hallervorden-Spatz disease was established by clinical findings including retinal pigment degeneration, basal ganglia hyperdensity on CT, and the rare association of acanthocytosis" 06/01/1986 - "The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal pigmentary degeneration, is presented" 10/01/2007 - "While it has been known for years that iron overload is associated with retinal degeneration in the context of ocular siderosis, intraocular hemorrhage, and the hereditary diseases aceruloplasminemia and pantothenate kinase associated neurodegeneration, recent evidence suggests that age-related macular degeneration (AMD) may also be exacerbated by retinal iron overload" Order ALL the reference details at left...
9.	DNA (Deoxyribonucleic Acid)IBA 02/01/2008 - "DNA-based diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests" 02/01/2008 - "Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration" 06/01/2005 - "Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA" 05/01/2005 - "The influence of iron deposits on T2 values and the content of metabolites in the brain of three patients with DNA proved pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) was studied" Order ALL the reference details at left...
10.	Cysteine (L-Cysteine)FDA Link 10/01/2007 - "Neurodegeneration with brain iron accumulation (NBIA), or Hallervorden- Spatz disease, is an extremely rare autosomal recessive disorder with cysteine-iron complex accumulation in globus pallidus, seen histopathologically" 10/01/1985 - "Accumulated cysteine may chelate iron, accounting for the local increase in iron content in Hallervorden-Spatz disease" 10/01/1985 - "These results suggest that cysteine accumulates locally in the globus pallidus in Hallervorden-Spatz disease as a result of an enzymatic block in the metabolic pathway from cysteine to taurine" 10/01/1985 - "Hallervorden-Spatz disease: cysteine accumulation and cysteine dioxygenase deficiency in the globus pallidus." 04/01/2006 - "Hallervorden-Spatz disease is a neurodegenerative disorder associated with cysteine-iron complex accumulation typically seen as bilateral symmetrical hypointense signal changes in the medial globus pallidus on magnetic resonance imaging" Order ALL the reference details at left...

Therapies and Procedures

1.	Pallidotomy 03/01/1999 - "Stereotactic pallidotomy in a child with Hallervorden-Spatz disease" 03/01/1999 - "The authors present a case of Hallervorden-Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia" 05/01/2004 - "Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy." Order ALL the reference details at left...
2.	Deep Brain Stimulation 12/01/2006 - "Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration." 04/01/2004 - "Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome" Order ALL the reference details at left...
3.	Anesthesia 01/01/2005 - "The authors presents some clinical and histochemical problems in Hallervorden-Spatz disease (HSD) and a suggestion about the choice of anesthesia in a teenage women qualified to dental sanitation" 01/01/2005 - "The choice of anesthesia in Hallervorden-Spatz disease]" Order ALL the reference details at left...

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