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. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder.

Author: Daibei Mugore
Country: Liechtenstein
Language: English (Spanish)
Genre: Environment
Published (Last): 14 June 2009
Pages: 29
PDF File Size: 3.33 Mb
ePub File Size: 4.93 Mb
ISBN: 395-9-59701-714-8
Downloads: 50945
Price: Free* [*Free Regsitration Required]
Uploader: Zulkilmaran

Clinical features of neuroleptic malignant syndrome in basal ganglia disease. Magnetic resonance imaging revealed small hyper intensity in inner part of both Hallervogden, surrounded by hypointense rim peripherally on T2.

If dopaminergic agents are not effective against dystonia, anticholinergics can be used, but they offer only transient relief.

disesae Views Read Edit View history. None, Conflict of Interest: Intrathecal or oral Baclofen in moderate doses relieves the stiffness and spasms and can reduce dystonia. MR spectroscopy in pantothenate kinase-2 associated neurodegeneration Parashari, U.

Atypical individuals often retain a high level of function into later adulthood and some are known to be living in their sixties to seventies.

Hallervorden-Spatz Disease

Etiology Hallervorden Spatz disease was first described in by two German physicians, Hallervorden and Spatz, as a form of familial brain degeneration characterized by cerebral iron deposition and hence the name so.


Generalized atrophy of the brain parenchyma may be seen in severely advanced cases. PMC ] [ PubMed: Author information Article notes Copyright and License information Disclaimer.

The following three disorders may present with early clinical symptoms dlsease are similar to those seen in classic PKAN:. This article reviews the benefits and uses of water kefir and provides a….

Hallervorden-Spatz disease

In some cases, as the disorder progresses, affected children may also experience involuntary movements of the face and hands, sudden involuntary muscle spasms spasticity of the lower arms and legs limbsand progressive paralysis of the legs and lower part of the body paraplegia.

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Symptoms include dystonia, sustained muscle contractions causing repetitive movementsdysarthria abnormal speechmuscular rigidity, poor balance, and spasticity sudden involuntary muscle spasmsThese features can result in clumsiness, gait walking problems, difficulty controlling movement, and speech problems.

This is an open-access article distributed under the terms of the Creative Hllervorden Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Pantothenate kinase-associated neurodegeneration

Symptoms may vary greatly from case to case. Individuals with severe cases of fucosidosis can develop life-threatening complications early in childhood. Individuals with PKAN have abnormal accumulation of iron in certain areas of the brain. Iron in the Hallervorden-Spatz syndrome.


Food is food, right? The average age for developing symptoms is 13 years. Open access journal indexed with Index Medicus. Because rare disorders like PKAN hallervirden go unrecognized, these disorders may be under-diagnosed or misdiagnosed, making it difficult to determine the accuracy of these estimates.

Years Published,, Dystonia in neurodegeneration with brain iron accumulation: Autopsies revealed brown discolorations in different areas of the brain particularly of interest were the globus pallidus and substantia nigra regions. In diwease to rigidity, dystonia, and chorea, patients may experience spasticity, brisk reflexes, and extensor plantar responses.

The PANK2 gene also encodes a Certain rare metabolic disorders can also present with symptoms similar to PKAN, including beta-hexosaminidase deficiency disorders such as Tay-Sachs disease and Sandhoff disease. Microscopically marked neuroaxonal and myelin degeneration is a distinctive pathologic feature of PKAN. How to cite this URL: Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course.