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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Non-ketotic hyperglycemic chorea—hemiballismus mimicking basal ganglia hemorrhage. A year-old girl was relatively asymptomatic until age of 14 years when she started walking on toes and unsteady gait.

Individuals with classical PKAN are more likely to have specific eye problems. Clinically, 5 patients had classic disease, 4 patients had atypical disease, and 4 had intermediate disease; 3 patients could not be classified.

Deficiency of pantothenate kinase 2 Pank2 in mice leads to retinal degeneration and azoospermia.

Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. C ] – Allelic to the less severe HARP syndromewhich is distinguished by the presence of hypobetalipoproteinemia and acanthocytosis – Similar to infantile neuroaxonal dystrophy INAD, Indian J Pediatr ; Evidence of extrapyramidal dysfunction, including 1 or more of the following: The known mutation in Agarwal community is pathogenic mutation 1c.


Bag Journal of Neuroimaging.

Technology at the Neural Interface. Genetic tests can confirm an abnormal gene causing the disease.

Hallervorden-Spatz Disease

All patients have the ‘eye of the tiger’ sign on brain MRI Hayflick et al. Iron deposits and axonal dystrophy were found in the pallidum.

You may also experience involuntary muscle contractions that cause abnormal posture or slow, recurring movements. Meyer hallervprden-spatz followed by Elejalde et al. StatPearls Publishing; Jan. Seizures — Have been described. Levels of copper, ceruloplasmin, lipids, amino acids, and acanthocytes typically are measured in the blood to exclude other conditions.

Occupational therapy can help you develop skills for daily life. Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Migraine Familial hemiplegic Cluster Tension. Diagnostic considerations The differential diagnosis of HSD includes other diseases presenting with extrapyramidal-pyramidal-dementia complex.


Pantothenate Kinase-Associated Neurodegeneration – NORD (National Organization for Rare Disorders)

Biotinidase deficiency Holocarboxylase synthetase deficiency. We need long-term secure funding to provide you the information that you need at your fingertips. The most common features were corticospinal signs, dysarthria, dystonia, and rigidity.

Approximately two-thirds of these patients will have retinal degeneration.

Hallervorden-Spatz disease

Journal List Adv Biomed Res v. Disruption of this enzyme affects energy and lipid metabolism and may lead to accumulation of potentially harmful compounds in the brain, including iron. Etiology The exact etiology of HSD is not known. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und synrome Substantia nigra.: It may also help reduce your muscle spasms and other muscular issues.

Iron in the Hallervorden-Spatz syndrome.