Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.
Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.
The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Thomas Klopstock practices in Munich, Germany. Klopstock is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, and Hallervorden-Spatz Disease.
Peter Stoeter practices in Plaza De La Salud, Dominican Republic. Stoeter is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Drug Induced Dyskinesia, Meningioma, and Gamma Knife Radiosurgery.
Penelope Hogarth is a Neurologist in Portland, Oregon. Hogarth has been practicing medicine for over 29 years and is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Beta-Propeller Protein-Associated Neurodegeneration, Parkinson's Disease, and Deep Brain Stimulation. Hogarth is currently accepting new patients.
Summary: Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The mai...
Summary: This trial is a multicenter, unblinded, single-arm pilot study, lasting one year (plus one year extension Amendment n.3 25 August 2009, plus two years follow-up Amendment n.7) , to evaluate the efficacy and safety of the chelator therapy with deferiprone on cerebral iron accumulations. The drug will be administered in the dosage of 15 mg/kg twice daily. The safety and tolerability of the drug will...
Published Date: June 29, 2021Published By: National Institutes of Health