1. NBIA Disorders Association Contains news, research information, family pages with personal stories, publications and resources, details of fundraising efforts and association history. http://www.hssa.org

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2. OMIM National Center For Biotechnology Information. A clinical synopsis of hallervordenspatz syndrome. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?234200

3. The First Scientific Workshop Of Hallervorden-Spatz Syndrome The First Scientific Workshop of hallervordenspatz syndrome. Grant Number NS40452-01 http://accessible.ninds.nih.gov/news_and_events/Hallervorden-Spatz.htm

News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders ... Find People News and Events section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Press releases Current Archived Events Proceedings ... NINDS Notes News articles Current Archived Online events Upcoming Archived Of interest ... Labs at NINDS NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page The First Scientific Workshop of Hallervorden-Spatz Syndrome Get Web page suited for printing Email this to a friend or colleague The First Scientific Workshop of Hallervorden-Spatz Syndrome Grant Number: NS40452-01 May 19 - 20, 2000 Principal Investigator: Susan J. Hayflick, MD Organization Conducting Meeting: Hallervorden-Spatz Syndrome Association and Oregon Health Sciences University Agenda May 19 May 20 Conclusions ... Participants Friday, May 19, 2000

4. Hallervorden-Spatz Syndrome (www.whonamedit.com) hallervordenspatz syndrome. Also known as Hallervorden-Spatz disease http://www.whonamedit.com/synd.cfm/1082.html

Home List categories Eponyms A-Z Biographies by country ... Contact Hallervorden-Spatz syndrome Also known as: Hallervorden-Spatz disease Gilman and Barrett neuroaxonal dystrophy type I Synonyms: Localized neuroaxonal dystrophy, late infantile neuroaxonal dystrophy, progressive pallidal degeneration syndrome, progressive pallidal degeneration or adult amaurotic idiocy, pigmentary degeneration syndrome of globus pallidus, substantia nigra and red nucleus, pallidoreticular pigment degeneration, progressive pallidal degeneration syndrome. Associated persons: Robert E. Barrett Sid Gilman Julius Hallervorden Hugo Spatz Description: A very rare disease beginning in childhood, with degeneration of the globus pallidus, red nucleus, and reticular part of the substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. Onset is in late childhood; death usually occurs within 10 years, but courses of up to 30 years have been described. Aetiology unknown; considered one form of iron storage disease. A heredo-familial syndrome, inherited as an autosomal recessive trait; some unrelated cases reported The original description concerned a sibship of 12 in which 5 sisters showed clinically increasing dysarthria and progressive dementia, and at autopsy brown discoloration of the globus pallidus and substantia nigra.

5. First Scientific Workshop On Hallervorden-Spatz Syndrome copy. First Scientific Workshop on hallervordenspatz syndrome NationalInstitutes of Health, Bethesda, Maryland May 19 20, 2000. http://www.hssa.org/workshop.htm

Pediatric Neurology devoted its August, 2001, issue Vol. 25, pages 89-176 to the First Scientific Workshop on Hallervorden-Spatz Syndrome. We have a limited number of copies available. This is a professional publication geared for physicians and health professionals. Please contact pwood@NBIAdisorders.org if you are interested in receiving a copy. First Scientific Workshop on Hallervorden-Spatz Syndrome National Institutes of Health, Bethesda, Maryland Researchers from 7 countries gathered together at NIH for the first time to discuss HSS. Scientists map out research strategy to tackle HSS By Dr. Susan J. Hayflick An historic event took place at the National Institutes of Health May 19 and 20. Nearly 50 scientists, physicians and others interested in HSS from around the world gathered for the First Scientific Workshop on Hallervorden-Spatz Syndrome, sponsored by the Office of Rare Disorders and the National Institute of Neurological Disorders and Stroke. This marked the first time researchers met to discuss what is known about HSS and what is needed to further HSS studies. Since few scientists study HSS, the meeting also had the goal of stimulating interest in the disorder among young researchers whose work relates to some aspect of the disease. After defining what we know about HSS - including its clinical, pathological and genetic features - we discussed iron metabolism and how the basal ganglia in the brain work. The group learned about other disorders of brain iron accumulation in humans and mice and discussed possible therapies for HSS, including chelation, nitric oxide and medications to limit the body’s production of damaging compounds (free radicals) as a result of the iron.

6. HONselect - Hallervorden-Spatz Syndrome English hallervordenspatz syndrome, - Pigmentary Pallidal Degeneration - Hallervorden-SpatzDisease - Pigmentary Pallidal Atrophy - Atrophies, Pigmentary http://www.hon.ch/HONselect/RareDiseases/C10.228.140.079.493.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Hallervorden-Spatz Syndrome - Pigmentary Pallidal Degeneration - Hallervorden-Spatz Disease - Pigmentary Pallidal Atrophy - Atrophies, Pigmentary Pallidal - Atrophy, Pigmentary Pallidal - Degeneration, Pigmentary Pallidal Français: HALLERVORDEN-SPATZ, MALADIE Deutsch: Hallervorden-Spatz-Syndrom - Pallidoretikuläre Pigmentdegeneration - Globus-pallidus-Pigmentdegeneration Español: SINDROME DE HALLERVORDEN-SPATZ - DEGENERACION PALIDAL PIGMENTARIA Português: SINDROME DE HALLERVORDEN-SPATZ - DEGENERACAO PALIDAL PIGMENTAR HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.079.493.html Last modified: Thu Jul 25 2002

7. HONmedia - Medical Images (H) Hair Cells, Inner (1), Hair Cells, Outer (1). Hair Diseases (1), Hair Follicle (1).Hair Follicle (1), hallervordenspatz syndrome (1). Hallux Valgus (3), Hand (2). http://www.hon.ch/HONmedia/H.html

HONmedia - repository of 3'300 medical images and videos Index A B C ... Z Search HONmedia: Submit images About HONmedia French version List of images with terms beginning by " H H(+)-Transporting ATP Synthase HIV HIV Protease Hair ... Hysteroscopy Other images with terms beginning by " H Acquired H yperostosis Syndrome American ... HONewsletter http://www.hon.ch/HONmedia/H.html Last modified: Thu Mar 13 2003

8. NEI - Page Has Been Moved The gene that causes hallervordenspatz syndrome has been identified by National Eye Institute (NEI) grantees. http://www.nei.nih.gov/news/072201.htm

Health Funding News Laboratories ... Help Viewing Site We've updated the NEI site.The page you have requested has been moved. Please update your bookmarks or links to the new URL, which is: http://www.nei.nih.gov/news/statements/hallervorden-spatz.htm You will be redirected to that page in 10 seconds. NEI Home Site Index Free Publications Contact Us ... Accessibility We welcome your questions and comments. Please send general questions and comments to the NEI Office of Communication, Health Education, and Public Liaison . Technical questions about this website can be addressed to the NEI Website Manager National Eye Institute 2020 Vision Place Bethesda, MD 20892-3655 www.nei.nih.gov d d

9. The First Scientific Workshop Of Hallervorden-Spatz Syndrome The First Scientific Workshop of hallervordenspatz syndrome DebbieForstall Secretary, hallervorden-spatz syndrome Association. http://www.ninds.nih.gov/news_and_events/Hallervorden-Spatz.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Press releases Current Archived Events Proceedings ... NINDS Notes News articles Current Archived Online events Upcoming Archived Of interest.. Labs at NINDS Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health The First Scientific Workshop of Hallervorden-Spatz Syndrome Get Web page suited for printing Email this to a friend or colleague The First Scientific Workshop of Hallervorden-Spatz Syndrome Grant Number: NS40452-01 May 19 - 20, 2000 Principal Investigator: Susan J. Hayflick, MD Organization Conducting Meeting: Hallervorden-Spatz Syndrome Association and Oregon Health Sciences University Agenda May 19 May 20 Conclusions ... Participants Friday, May 19, 2000 7:00 - 8:00AM Registration 8:00 - 8:15AM Opening Remarks Section I - Chaired by Swaiman 8:15 - 9:45AM Session I - Clinical Delineation of HSS Data from International Patient Registry - Hayflick (30) 9:45 - 10:00AM Roundtable discussion 10:00 - 10:15AM Break 10:15 - 11:00AM Session II - Pathology of HSS 11:00 - 11:15AM Roundtable discussion 11:15 - 11:45PM Session III - Genetics of HSS Mapping the gene(s) for HSS - Hayflick (15) Candidate disease genes - Zhou (15) 11:45 - 12:00PM Roundtable discussion 12:00 - 1:00PM Lunch Section II - Chaired by Rouault 1:00 - 1:45PM Session IV - Systemic Iron Transport and Metabolism

10. NINDS Hallervorden-Spatz Disease Information Page Information sheet compiled by NINDS.Category Health Conditions and Diseases...... hallervordenspatz syndrome Association/ NBIA Disorders Association 2082 MonacoCourt El Cajon, CA 92019-4235 HSSA-KWPAC@msn.com http//www.hssa.org Tel 619 http://www.ninds.nih.gov/health_and_medical/disorders/hallervorden.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Hallervorden-Spatz Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Hallervorden-Spatz Disease Information Page Synonym(s): Neurodegeneration with Brain Iron Accumulation Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Hallervorden-Spatz Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Hallervorden-Spatz Disease? Hallervorden-Spatz disease, also called Neurodegeneration with Brain Iron Accumulation, is a rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Other less common symptoms may include painful muscle spasms, dysphasia (difficulty speaking), mental retardation, facial grimacing, dysarthria (poorly articulated speech), and visual impairment.

11. Hallervorden-Spatz Syndrome hallervordenspatz syndrome Guide picks. hallervorden-spatz syndrome AssociationComprehensive information on the syndrome in clear language. http://rarediseases.about.com/cs/hallervordenspatz/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Hallervorden-Spatz Syndrome Guide picks An inherited neurological movement disorder characterized by iron deposits in the brain, leading to progressive degeneration of the nervous system. Hallervorden-Spatz Syndrome Association Comprehensive information on the syndrome in clear language. MCW Health Link Brief information on the disorder from the Medical College of Wisconsin. NINDS: Hallervorden-Spatz Disease Information on the syndrome from the National Institute for Neurological Disorders and Stroke. NORD: Hallervorden-Spatz Disease Brief definition of the disorder from the National Organization for Rare Disorders (NORD). OHSU: Hallervorden-Spatz Syndrome Good overview of the Hallervorden-Spatz disorders and Oregon Health Science University research, by Susan J. Hayflick, MD.

12. Hallervorden-Spatz Syndrome Links to information and resources for hallervordenspatz syndrome, an inherited neurological movement disorder. OHSU hallervorden-spatz syndrome. Good overview of the Hallervorden-Spatz disorders and Oregon Health Science http://www.lupus.about.com/cs/hallervordenspatz

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Hallervorden-Spatz Syndrome Guide picks An inherited neurological movement disorder characterized by iron deposits in the brain, leading to progressive degeneration of the nervous system. Hallervorden-Spatz Syndrome Association Comprehensive information on the syndrome in clear language. MCW Health Link Brief information on the disorder from the Medical College of Wisconsin. NINDS: Hallervorden-Spatz Disease Information on the syndrome from the National Institute for Neurological Disorders and Stroke. NORD: Hallervorden-Spatz Disease Brief definition of the disorder from the National Organization for Rare Disorders (NORD). OHSU: Hallervorden-Spatz Syndrome Good overview of the Hallervorden-Spatz disorders and Oregon Health Science University research, by Susan J. Hayflick, MD.

13. Movement Disorders Dystonia Foundation Explains the relationships among facial tic, essential tremor,dystonia, parkinsonism, hallervordenspatz syndrome, wilson's disease, and http://rarediseases.about.com/cs/movementdisorders/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Movement disorders Guide picks Links to subject pages and feature articles on movement disorders (characterized by tics, tremors, chorea, and problems with balance and coordination). Feature article "Bugs, PANDAS, and Tics" examines the relationship between infections, post-infections syndromes, and Sydenham chorea and Tourette syndrome. From the About.com Guide to Rare/Orphan Diseases. Deep Brain Stimulation It seems futuristic: tiny wires in the brain sending electrical impulses that stop trembling. Yet since 1997 more than 2,100 people have had deep brain stimulation systems implanted. Researchers believe there are many more people it can help. From the About.com Guide to Rare/Orphan Diseases. Dystonia Foundation Explains the relationships among facial tic, essential tremor, dystonia, parkinsonism, Hallervorden-Spatz syndrome, wilson's disease, and congenital torticollis.

14. Hallervorden-Spatz Syndrome Gene Discovery Home News and Events Statements and Reports on Vision hallervordenspatz syndromeGene Discovery. NEI Statement. hallervorden-spatz syndrome Gene Discovery. http://www.nei.nih.gov/news/statements/hallervorden-spatz.htm

Health Funding News Laboratories ... Statements and Reports on Vision NEI Statement Hallervorden-Spatz Syndrome Gene Discovery National Eye Institute National Institutes of Health The gene that causes Hallervorden-Spatz syndrome has been identified by National Eye Institute (NEI) grantees. Hallervorden-Spatz syndrome is a rare, inherited, neurological disorder associated with high accumulations of iron in the brain, and causes progressive degeneration of the retina and nervous system. The new findings appear in the August 2001 issue of Nature Genetics. Susan J. Hayflick, MD, associate professor of Molecular and Medical Genetics at Oregon Health Sciences University in Portland, and colleagues discovered that the defective gene produces an ineffective enzyme. The body needs the normal enzyme to utilize vitamin B5; without it, vitamin B5 cannot produce some of the body's essential compounds. The ineffective enzyme results in Hallervorden-Spatz syndrome. Because of this research, scientists can now focus their efforts on developing treatment strategies that bypass this defective enzyme, allowing the body to utilize vitamin B5 to help make the essential body compounds. Researchers can also look toward developing a genetic diagnostic test for the syndrome. Understanding the biochemical defects in Hallervorden-Spatz syndrome may also provide insights into the effect iron has on other neurodegenerative diseases associated with high iron accumulations, such as Parkinson's disease.

15. Statements And Reports On Vision HallervordenSpatz hallervorden-spatz syndrome Gene Discovery July 2001; InfancyMyopia Development and Nighttime Light Exposure in Infancy March 9, 2000; http://www.nei.nih.gov/news/statements/

Health Funding News Laboratories ... News and Events Statements and Reports on Vision Glaucoma: Statement on the Collaborative Initial Glaucoma Treatment Study January 2002 Glaucoma: Collaborative Initial Glaucoma Treatment Study Findings November 2001 Glaucoma: Glaucoma Detection May 1998 Glaucoma: Glaucoma Gene Identified January 30, 1997 Glaucoma: Prevalence of Glaucoma in Mexican-Americans December 2001 Hallervorden-Spatz: Hallervorden-Spatz Syndrome Gene Discovery July 2001 Infancy: Myopia Development and Nighttime Light Exposure in Infancy March 9, 2000 Lutein: Lutein and Eye Disease Prevention July 2002 Marijuana: Glaucoma and Marijuana Use February 18, 1997 Also See Medical Utility of Marijuana Workshop Report to the Director, NIH, by the Ad Hoc Group of Experts February 1997 Myopia: Myopia ProgressionEffect of Bifocal vs. Single Lenses September 2000 National Plan: Vision ResearchA National Plan Preschool: Preschool Vision Screening Task Force Report November 2000 Screening: Vision Screening in Adults May 1998 Stargardt's: Stargardt's Gene Discovery March 3, 1997

16. NEJM -- Hallervorden-Spatz Syndrome January 2, 2003 Hallervorden–Spatz Syndrome. Hallervorden–Spatzsyndrome is an autosomal recessive disorder characterized by http://content.nejm.org/cgi/content-tweek/full/348/1/1-c

January 2, 2003 disorder characterized by dystonia, parkinsonism, and brain iron accumulation. The authors found that all patients with classic disease (characterized by early onset and rapid progression) and one third of patients with atypical disease (later onset and slow progression) had mutations in the gene encoding pantothenate kinase 2 ( ). All patients with mutations had a characteristic abnormality on magnetic resonance imaging of the brain. syndrome can be better described as having neurodegeneration associated with mutations. Related Perspective

17. Julius Hallervorden (www.whonamedit.com) hallervordenspatz syndrome A very rare disease with degeneration of theglobus pallidus, red nucleus, and substantia nigra of the brain. http://www.whonamedit.com/doctor.cfm/535.html

Home List categories Eponyms A-Z Biographies by country ... Contact Julius Hallervorden German neurologist, 1882-1965. Associated eponyms: Hallervorden's syndrome A rather variable and aspecific disturbance of unknown aetiology marked by neurologic and mental symptoms and signs of progressive loss of vision and speech, then hearing, down to decerebration. Hallervorden-Spatz syndrome A very rare disease with degeneration of the globus pallidus, red nucleus, and substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. Kufs' disease A form of sphingolipidosis with onset of symptoms in adolescence. Biography: Julius Hallervorden and Hugo Spatz: The murderers among us. Julius Hallervorden was born in East Prussia. He came to Emil Kraepelin’s (1856-1927) clinic in Munich to spend sabbatical leave there and brought with him the brain of a girl who had suffered with the syndrome. He met Spatz there and together they described the syndrome. Hallervorden worked with Spatz from then on. A distinguished academician, Hallervorden occupied the Chair of Neuropathology at the Kaiser Wilhelm Institut in Berlin-Buch throughout the war years and following the war was a neuropathologist at the Max Planck Institute in Frankfurt. Like his friend, Hugo Spatz, Hallervorden became a notorious Nazi war criminal. When Adolf Hitler's infamous words on the morning of September 1, 1939, "Seit fünf Uhr fünfundvierzig wird jetzt zurückgeschossen", marked the attack on Poland, Hallervorden was the Prosector (Pathologist) at the Brandenburg State Hospital. That year an euthanasia centre had been established at the Brandenburg-Görden centre, where there was a sudden surge in institutional deaths.

18. HALLERVORDEN-SPATZ SYNDROME Features Listed For hallervordenspatz syndrome. McKusick 234200. Cerebralatrophy/myelin abnormality; Extra-pyramidal disorder; Nystagmus; Optic atrophy; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?730

19. Hssafamilyinfo.htm hallervordenspatz syndrome An overview Hallervorden Family Support Information.Research into the Cause of hallervorden-spatz syndrome. My http://www.ohsu.edu/som-genetics/hayflick/genesjh/hssafamilyinfo.htm

Hallervorden-Spatz Syndrome: An overview Hallervorden-Spatz syndrome (HSS) is the name given to a group of disorders that share the common feature of iron deposits in the brain. Though the causes of HSS are not known, the condition has been well-described in the medical literature for more than fifty years. While it is a rare disorder, most neurologists and geneticists are familiar with the condition and know what features to look for in order to make the diagnosis. Sometimes, however, HSS can be a tough diagnosis to figure out and it may come only after years of hunting for an answer. Since HSS is a genetic condition, there may be several people affected in a family. Treatment is aimed at alleviating the symptoms but often provides only partial relief. Physicians and scientists are working diligently to better understand HSS and its causes in order to develop better therapies aimed at treating the underlying problem. Not all HSS is the same disease. The most common form of HSS, which I call classical HSS, has very distinctive features. The main features of classical HSS are iron deposits in the brain, night blindness (retinitis pigmentosa) and uncontrolled muscle spasms (dystonia). Other features may include difficulty with speech (dysarthria), problems of thinking (dementia), seizures, uncontrolled writhing movements (chorea) and tremor. Classical HSS nearly always has its first signs in childhood. These presenting signs or symptoms may include difficulty with walking or balance or problems with speech. Some children have delay in their general development from infancy. Regardless of when the first signs of HSS show, this condition is always progressive. Children and adults with HSS develop increasing difficulties as well as new signs and symptoms as they get older.

20. OHSU News Release OHSU RESEARCHERS DISCOVER KEY GENE BEHIND hallervordenspatz syndrome.Finding may also assist in developing greater understanding http://www.ohsu.edu/news/072301hss.html

News and Information July 23, 2001 Contact: Jim Newman newmanj@ohsu.edu Hallervorden-Spatz Syndrome Association OHSU Department of Molecular and Medical Genetics Index of current releases ... News release archive OHSU RESEARCHERS DISCOVER KEY GENE BEHIND HALLERVORDEN-SPATZ SYNDROME Finding may also assist in developing greater understanding of Parkinson's disease, Alzheimer's disease and Huntington's disease PORTLAND, "Nine years ago, when we first began our investigations, we had very little understanding behind the cause of HSS," said Hayflick, who is senior author of the paper. "Today we have made a tremendous leap towards developing therapies to slow or stop the disease, or perhaps even cure it. Additionally, while HSS is considered quite rare, it is a part of a family of neurodegenerative diseases. We're hoping that this research will also provide new hope for patients with related disorders such as Parkinson's disease." HSS is a rare but well-known genetic disorder characterized by the accumulation of iron deposits in the brain. Specifically, these deposits surface in the basal ganglia, a region that controls body movement. This results in a gradual loss of muscle control. Patients with HSS can also experience night blindness and witness the gradual loss of the ability to speak and chew food. Degeneration caused by the disease is progressive and can shorten lifespan. HSS is an autosomal recessive disorder, meaning both parents must contribute a defective PANK2 gene for the disease to surface in their offspring. When two parents both carry PANK2 mutations, there is a 25 percent chance of occurrence for the disease during each pregnancy.

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