Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. 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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Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters exhibited progressively increasing dementia and poor articulation and slurred speech dysarthria. The frequency of PKAN is estimated to be one to three per million individuals worldwide. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter.

Neurological examination revealed sever slurred speech; sever tongue dystonia, mild bilateral rigidity on lower limbs, hyperreflexia, and auto babinski.

Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Because of the limited ability to protect themselves during falls, children may have repeated injury to the face and chin. All the abnormal movements subsided during sleep. In addition to rigidity, dystonia, and chorea, patients may experience spasticity, brisk reflexes, and extensor plantar responses.

The anticholinergic agent benztropine helps rigidity and tremor. The following three disorders may present with early clinical symptoms that are similar to those seen in classic PKAN:.

Phosphopantothenate has been shown to treat PKAN in a human, and also in a mouse model of the disease.


MRI hqllervorden revealed small hyper intensity in inner part of both GP, surrounded by the hypo-intense rim peripherally on T2 [ Figure 3 ]. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

A study reporting good outcomes in a single patient with late onset PKAN has been performed. Click here to view as Video 2 ABRv Please review our privacy policy. The hyper-intensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling, and the surrounding hypointensity is due to the loss of signal secondary to iron deposition.

HSD can halleevorden fatal.

Iron and iron management proteins in neurobiology. Summary and related texts. Prenatal testing is available if both disease-causing mutations have been identified in an hallervordwn family member.

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

Celebration and conversation can do a lot of help break down stigmas. Late onset parkinsonian syndrome in Hallervorden-Spatz disease. Fundus examination was halelrvorden. Rehabilitation of patients with Hallervorden-Spatz syndrome.

Hallervorden-Spatz disease

In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Professionals Summary information Greekpdf Anesthesia guidelines Englishpdf Review article English Clinical genetics review English The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. National Center for Biotechnology InformationU. Onset is in the first or second decade and death usually occurs before the age of 30 years. Using linkage analysis of an extended Amish pedigree, Zhou et al. Neurodegeneration with brain iron accumulation 8.


Additional abnormalities may include relatively slow, involuntary, continual writhing movements athetosis or chorea, a related condition characterized by irregular, rapid, jerky movements. Please review our privacy policy. The symptoms and physical findings vary from case to case. In a short time, his dystonia propagated to other limbs and dysphagia worsened and he developed incomprehensive speech. There was a correlation between predicted loss-of-function alleles and earlier age at disease onset.

The MRI demonstrated extremely low signal intensity of the globus pallitus and in spafz zona reticularis of the substantia nigra on the T2-weighted images. Drugs that reduce the levels of iron in the body iron chelation have been attempted to treat individuals with PKAN.

Hallervorden-Spatz disease

Muller-Hill reviewed much of this information in his ‘Murderous Science. Unable to process the form.

Here we present four HSD cases with different hqllervorden pictures. Syndromes of neurodegeneration with brain iron accumulation. Individuals with PKAN have abnormal accumulation of iron in certain areas of the brain. In addition, some patients with Kufor-Rakeb syndromealso known as Parkinson disease-9 PARK9have iron deposition in the basal ganglia. Such hallervordden result in an autosomal recessive inborn error of coenzyme A metabolism called PANK2— associated neurodegeneration.

PKAN is an autosomal recessive disorder.

Pantothenate kinase-associated neurodegeneration

Uallervorden birth was uneventful and there was no delay in attaining the milestones. Deficiency of pantothenate kinase 2 Pank2 in mice leads to retinal degeneration and azoospermia. There was no history of seizures, jaundice, visual or psychiatric disturbances.

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