PDF Agency

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.

Author: Kajitaxe Zumuro
Country: South Africa
Language: English (Spanish)
Genre: Art
Published (Last): 21 May 2015
Pages: 228
PDF File Size: 12.53 Mb
ePub File Size: 9.26 Mb
ISBN: 993-4-12158-581-1
Downloads: 78595
Price: Free* [*Free Regsitration Required]
Uploader: Kezil

Patient cells showed impaired transferrin and TFRC trafficking and recycling compared to controls, with clustering at the surface and in the perinuclear region, as well as abnormally enlarged lysosomes.

Deficiency of pantothenate kinase 2 Pank2 in mice leads to retinal degeneration and azoospermia. Iron and iron management proteins in neurobiology. Journal of Clinical Neuroscience.

Magnetic resonance imaging revealed small hyper intensity in inner part of both GP, surrounded by hypointense rim peripherally on T2. The name Hallervorden-Spatz syndrome became discouraged and was replaced with neurodegeneration with brain iron accumulation because of concerns regarding Dr.

The association between pantothenate hallervroden-spatz and PKAN suggests that supplemental pantothenate pantothenic acid, calcium pantothenate taken orally could be beneficial. Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome. Published by Wolters Kluwer – Medknow. A neurological examination would show evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. Non-ketotic hyperglycemic chorea—hemiballismus mimicking basal ganglia hemorrhage.

Parkinson disease is a slowly progressive neurologic condition characterized by involuntary trembling tremormuscular stiffness or inflexibility rigidityslowness of movement and difficulty carrying out voluntary movements. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous hallervorde-nspatz do develop the classic form of the disease.


Common speech problems are repetition of words hallervorden-spatzz phrases palilaliarapid speech tachylaliaand dysarthria.

Hallervorden-Spatz Disease

Clinical Testing and Work-Up Neurologic examination for dystonia, rigidity, choreoathetsis, spasticity and speech should be conducted. Bokhari 1 ; Syed Rizwan A. The symptoms and physical findings associated with PKAN gene mutations can be distinguished between classical and atypical disease. Insomnia Hypersomnia Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine—Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Nonhour sleep—wake disorder Jet lag.

Seizures — Have been described.

Pantothenate kinase-associated neurodegeneration – Wikipedia

Journal List Adv Biomed Res v. Migraine Familial hemiplegic Cluster Tension. The youngest, a sister, had been diagnosed as having Alzheimer disease. Bag Journal of Neuroimaging. Maseumeh Dashti and Ahmad Chitsaz. Genetic and nosologic considerations in Hallervorden-Spatz disease. Familial idiopathic basal ganglia calcification FIBGC is a rare neurological disorder characterized by the presence of abnormal calcium deposits calcifications of unknown cause.

A multidisciplinary team approach involving physical, occupational and speech therapists may be needed in selected patients with a protracted course to improve functional skills and communication. This article reviews the benefits and uses of water kefir and provides a…. Iron in the Hallervorden-Spatz syndrome.

Pantothenate kinase-associated neurodegeneration | Radiology Reference Article |

Dystonia affects the muscles in the mouth and throat, which may cause dysarthria and difficulty swallowing dysphagia. The parents, nonconsanguineous, died accidentally at age Even the healthiest person you know has probably had their fair share of…. Introduction Hallervorden-Spatz syndrome was first described in by Drs. A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: If you suspect you have HSD, discuss this concern with your doctor.


Hallervorden-spqtz is usually a combination of rigidity and spasticity and may be difficult to treat. Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells acanthocytosis and neurological abnormalities, especially movement disorders.

Rare Disease Database

The ‘eye-of-the-tiger’ sign is not pathognomonic of the PANK2 mutation. Autopsies revealed brown discolorations in different areas of the brain particularly of interest were the globus pallidus and substantia nigra regions.

The ” eye of the tiger ” sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and syndrkme 3. Box Bethesda, MD Phone: Genetic, clinical and radiographic delineation of Hallervorden-Spatz Syndrome.

J Child Neurol ; Both Hugo Spatz and Julius Hallervorden were involved in the Nazi euthanasia program and, as such, the alternative name is preferred by some authors. These individuals have later onset, and their diverse phenotypes include early-onset Parkinson disease, severe intermittent dystonia, stuttering with palilalia or facial tics with repetitive hair caressing; all had evidence of increased basal ganglia iron.

Magnetic resonance imaging MRI scan revealed small hyper intensity in the inner part of both GP, surrounded by the hypo-intense rim peripherally on T2 [ Figure 1 ]. Botulinum toxin for treatment of jaw opening dystonia in Hallervorden-Spatz syndrome.

In most cases, progression of the disease extends over several years, leading to death in childhood or early adulthood in classic cases. Approximately two-thirds of these patients will have retinal degeneration.