Hallervorden-Spatz disease now more commonly known as Pantothenate kinase -associated neurodegeneration (PKAN) is a rare autosomal. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the. Hallervorden-Spatz syndrome was first described in by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters.

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This is known as dystonia. In lower limbs, tremor was more severe on the left side. Intrathecal or oral Baclofen in moderate doses relieves the stiffness and spasms and can reduce dystonia.

Botulinum toxin for treatment of jaw opening dystonia in Hallervorden-Spatz syndrome.

Hallervorden-Spatz disease

Expert curators review the literature and organize it to facilitate your work. In all patients with classic or atypical PKAN, T2-weighted MRI of the brain showed a specific pattern of hyperintensity within the hypointense medial globus pallidus.

Poliomyelitis Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess. Intellectual testing may be hampered by the movement disorder; therefore, newer methods of studying intelligence are necessary to determine if there are any cognitive features of this condition.

Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. PKAN affects males and females in equal numbers. PKAN is the most common type of neurodegeneration with brain iron accumulation NBIAa group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and postural disturbances extrapyramidal.


It causes issues with movement. Neurodegeneration with Brain Iron Accumulation: Mutations result in an autosomal recessive inborn error hallervorden-sptaz coenzyme A metabolism with resultant deficiency of pantothenate kinase may lead to accretion of cysteine and cysteine-containing compounds in the basal ganglia. Homozygous male mutants were infertile due to azoospermia, a condition that was not appreciated in affected humans.

Using linkage analysis of an extended Amish pedigree, Zhou et al.

Hallervorden-Spatz disease

B5 Pantothenate kinase-associated neurodegeneration B12 Methylmalonic acidemia. If both pathogenic variants have been found in an affected family member carrier testing for at-risk relatives is possible by the same technique. Neurodegeneration with brain iron accumulation: While portions of the globus pallidus and pars reticulata of the substantia nigra SN have high iron content in healthy individuals, individuals with HSD have excess amounts of iron deposited in these areas.

For rigidity and spasticity, dopamine agonists hqllervorden-spatz anticholinergic agent alone or in combination may be used.

Pantothenate kinase-associated neurodegeneration

Thank you for updating your details. This disorder primarily affects people of Portuguese heritage. There was never a direct order to participate, and refusal to cooperate did not result in legal action or professional setback. Extrapyramidal and movement disorders Vitamin, coenzyme, and cofactor metabolism disorders Syndromes affecting the nervous system. Here we present four HSD cases with different clinical pictures. The NCLs are characterized by abnormal accumulation of certain fatty, granular substances i.


Onset is in the first or second decade and death usually occurs before the age of 30 years. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Pantothenate is another name for vitamin B5, a water soluble vitamin.

Genetic Heterogeneity of Neurodegeneration with Brain Iron Accumulation Neurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders.

Click on image for details. Etiology Hallervorden Spatz disease was first described in by two German physicians, Hallervorden and Spatz, as a form of familial brain degeneration syndromf by cerebral iron deposition and hence the name so. Most recently Pellecchia et al.

This article reviews the differences between beet and cane sugar to…. This causes chelation of iron in the globus pallidus and rapid auto-oxidation of cysteine in the presence of iron wit subsequent free radical generation. Nausea and Birth Control Pills: Dementia is progressive, and no treatment has proved clearly effective.

StatPearls Publishing ; Jan. Patients with this disease suffer from a variety of other neurological symptoms and signs including: Textbook of Child Neurology, 5th ed. Support Radiopaedia and see fewer ads.