PubMed Medline Query A clinical study of a large inbred kindred with pure familial spastic paraplegia . families with the pure form of hereditary spastic spinal paralysis. http://assoc.wanadoo.fr/asl.spastic/fichierslies/medline.htm
Extractions: INTRODUCTION :- Fahr Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposition and associated cell loss in the areas of brain that control movement, including basal ganglia and cerebral cortex. The condition was first described by Fahr in 1930. According to reports in medical literature, Fahr Disease is often familial. It is believed to have autosomal dominant inheritance but a few cases have been reported to have autosomal recessive inheritance and even some sporadic cases have been reported in literature. The association between the abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptible locus for Fahr Disease. CASE REPORT :- DISCUSSION :- Fahr Disease or familial idiopathic basal ganglia calcification is characterized by bilateral basal ganglia clacification .The most common site of calcification is the globus pallidus . However additional areas of calcification are putamen, caudate nucleus, internal capsule, dentate nucleus, thalamus, cerebellum and cerebral white matter. The calcium deposits occur in the extracellular and extravascular space often surrounding the capillaries. It is not clear whether the calcification in Fahr Disease is a metastatic deposition, secondary to local disruption of blood brain barrier, or is due to disorder of neuronal calcium metabolism.
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics There is an Erratum (November 2001) associated with this Article. Shinji Hadano , Collette K. Hand , Hitoshi Osuga , Yoshiko Yanagisawa , Asako Otomo , Rebecca S. Devon , Natsuki Miyamoto , Junko Showguchi-Miyata , Yoshinori Okada , Roshni Singaraja , Denise A. Figlewicz , Thomas Kwiatkowski , Betsy A. Hosler , Tally Sagie , Jennifer Skaug , Jamal Nasir , Robert H. Brown Jr , Stephen W. Scherer , Guy A. Rouleau , Michael R. Hayden NeuroGenes, International Cooperative Research Project, Japan Science and Technology Corporation, Tokai University School of Medicine, Isehara, Kanagawa 259-1193, Japan. Department of Molecular Neuroscience, The Institute of Medical Sciences, Tokai University, Isehara, Kanagawa, Japan.
Extractions: Introduction Stored DNA / Cell Lineages Accessibility Blood Sampling Shipping of Blood Samples Reception of Samples Withdrawal of DNA or Cell Lineages from the Bank Table 1 ). However, the use of the Bank's material remains subject to specific agreements between involved parties (consent of participants and approval of projects by an ethics committee) which could limit the accessibility of some of the material to specific uses. The Bank also allows medical doctors and researchers the possibility of storing DNA and making cell lines without having to invest in the necessary infrastructure. Table 1 . Diseases for which cell lines already exist and/or for which DNA is stored. The number of specimens includes affected persons and non-affected family members of affected individuals. Number
Mobility Impairments And Neurological Conditions Hereditary spastic Paraplegia / familial spastic Paraparesis paralysis (seealso MS, Spinal Injury and other conditions leading to paralysis) http://www.netreach.net/~abrejcha/mobility.htm
Extractions: This is part of the Brejcha Personal and Disability Resource Site at http://www.netreach.net/~abrejcha, and after reading this page you can click here to go back to Organizations and Resources . But for now, Welcome to my: INTERNET DISABILITY RESOURCES May 7, 2005 TO START National Institute of Neurological Disorders and Stroke (NINDS) at http://www.ninds.nih.gov is the Federal Government's leading supporter of biomedical research on nervous system disorders, including MS. Amputee: http://www.amputee-center.com offers a range of resources, links and information. Amyotrophic Lateral Sclerosis (ALS or Lou Gherig's): The ALS Survival Guide at http://www.lougehrigsdisease.net is an excellent and resource-rich site. Another great site is the Beat ALS page of Doug's Home Page at http://home.earthlink.net/~jakesan/beatals.html . The PALS Webring at http://www.users.bigpond.com/paulfran/JoinPALS.htm has a bunch of info and links on this condition. Preoject ALS at http://www.projectals.org is a key player in working to get stem cell research going for ALS and other conditions (as shown in the recent CBS television movie "Jenifer" about the founding of the organization) Ataxia: The National Ataxia Foundation at http://www.ataxia.org
Full Listing BOWEL DEFECTS AND ABNORMALITIES, BRACHIAL PLEXUS paralysis, BRAIN INJURED, familial HYPERLIPIDAEMIA, familial spastic PARAPLEGIA, FAMILY, http://www.doctor.gp/help/full_listing.htm
Gene Discovered For A Dementing Brain Disease the affected person progressively develops severe dementia and spastic paralysis . The NYU group named the disease familial British Dementia. http://hdlighthouse.org/see/aggregates/addeposits.htm
Extractions: NYU Medical Center, 24-Jun-99 Amyloid is a general term used to describe proteins that form so-called beta-sheets, which fold in a particular way to form deposits in the brain. A number of brain disorders associated with dementia are linked to amyloid, including Alzheimer's, the most common form of senile dementia. While they all share a common fingerprint, namely the deposition of amyloid and neuronal loss, the nature and distribution of the amyloid protein within the brain differs with each disease for unknown reasons. A single alteration in the DNA alphabet occurring in a newly discovered human gene causes an unusual form of hereditary dementia characterized by amyloid deposits in the brain, one of the hallmarks of Alzheimer's disease, according to a new study by New York University School of Medicine scientists. The discovery solves a longstanding medical mystery involving descendants of a British woman who died in 1883 and may help lead to a better understanding of Alzheimer's and other dementias. The NYU School of Medicine researchers found the genetic alteration, or mutation, in a gene they dubbed "BRI." The unusual mutation, which occurs at a "stop codon," produces an abnormal protein fragment that forms plaques in the brain of affected family members, according to the new study in June 24 issue of Nature. The researchers developed a blood test to detect the mutation.
SPF - HSP General Information HSP is also known as Hereditary spastic Paraparesis, familial spastic Paraplegia Hereditary CharcotDisease, spastic Spinal paralysis, Diplegia Spinalis http://www.sp-foundation.org/hsp.htm
Extractions: How severe will my symptoms get? ... Where can I get more information? What is HSP? HSP is a term for a group of rare, inherited neurologic disorders along the motor neuron disease continuum. Their primary symptom is progressive spasticity (stiffness) and weakness of the leg and hip muscles. There are at least twenty types of HSP and the genetic causes are known for eleven. The disorder is estimated to affect some 20,000 people in the U.S. There are many different names used for HSP. The most common are Hereditary Spastic Paraplegia (or Paraparesis), Familial Spastic Paraparesis (or Paraplegia) and Strümpell-Lorrain Disease. Others are Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome and Silver syndrome.
MedlinePlus Medical Encyclopedia: Hyperkalemic Periodic Paralysis Unlike other forms of periodic paralysis (such as familial periodic paralysisand thyrotoxic Weakness is flaccid (loose) rather than spastic (tight). http://www.nlm.nih.gov/medlineplus/ency/article/000316.htm
Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Muscular atrophy Alternative names Return to top Paramyotonia congenita; Periodic paralysis - hyperkalemic Definition Return to top Hyperkalemic periodic paralysis is associated with elevated levels of potassium in the bloodstream. The disorder causes occasional episodes of muscle weakness Causes, incidence, and risk factors Return to top The cause of hyperkalemic periodic paralysis is believed to be a genetic muscle disease. In most cases it is inherited directly; in other cases, it occurs randomly in a family group. The disorder involves attacks of muscle weakness or paralysis , alternating with periods of normal muscle function. Attacks usually begin in early childhood. Multiple daily attacks are not uncommon. Attacks typically last only 1 to 2 hours, but can sometimes last as long as a day. They tend to occur while resting after exercise or exertion. Attacks may also be triggerd by cold expsoure or eating small amounts of potassium. Unlike other forms of periodic paralysis (such as familial periodic paralysis and thyrotoxic periodic paralysis ), hyperkalemic periodic paralysis is not associated with low potassium in the bloodstream (
MedlinePlus Medical Encyclopedia: Thyrotoxic Periodic Paralysis There is a similar disorder, hypokalemic periodic paralysis (familial periodic Weakness is constant rather than spastic (spasmodic) and is greater in http://www.nlm.nih.gov/medlineplus/ency/article/000319.htm
Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Thyroid gland Alternative names Return to top Periodic paralysis - thyrotoxic Definition Return to top Thyrotoxic periodic paralysis a syndrome characterized by intermittent episodes of muscle weakness that occurs in people with high levels of thyroid hormone ( thyrotoxicosis , hyperthyroidism). Causes, incidence, and risk factors Return to top Thyrotoxic periodic paralysis is a rare condition that occurs only in people with thyrotoxicosis (high thyroid hormone levels). It is seen most commonly in Asian men. There is a similar disorder, hypokalemic periodic paralysis (familial periodic paralysis), that is an inherited condition and is not associated with high thyroid levels. Thyrotoxic periodic paralysis involves attacks of muscle weakness or paralysis alternating with periods of normal muscle function. Attacks usually begin after symptoms of hyperthyroidism have developed. The frequency of attacks varies from daily to yearly. Episodes of muscle weakness may last for a few hours or may persist for several days.
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Harding, A. E. Journal of Neurology, Neurosurgery, and Psychiatry, 1981, Vol 44, 871-883 AE Harding
Extractions: Several former workers from Kelly Air Force Base (AFB) and community members residing near the base have expressed concern about amyotrophic lateral sclerosis (ALS) and the possible association with environmental contaminants. Representatives from the South Texas Chapter of the ALS Association, the Air Force Institute for Environment, Safety and Occupational Risk Analysis (AFIERA), the San Antonio Metropolitan Health District (SAMHD), and the Texas Department of Health are conducting an evaluation of ALS cases with previous connections to Kelly AFB. AFIERA also is supporting a mortality study of former Kelly AFB civilian workers that will evaluate ALS among other endpoints. To complement these efforts, the Agency for Toxic Substances and Disease Registry has prepared the following report. This report begins with a general overview of ALS, including its clinical and epidemiological characteristics. This description is followed by a review of the available literature on suspected environmental risk factors associated with the disease. Finally, this report includes a presentation of the ALS mortality experience for Bexar County in recent years. It is expected that this report will provide a useful context within which community members concerned about ALS and potential associations with Kelly Air Force Base may begin to seek answers.
Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by DE LANGE, R P J Articles by CLAIR, D M S. Related Collections Genetics J Med Genet 224-225 ( March ) E DITOR CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy) is a hereditary form of multi-infarct vascular dementia. Clinical symptoms often present in middle adult life (30-50 years of age) and include recurrent subcortical ischaemic strokes, migraine with or without aura, major psychiatric symptoms, and dementia. Magnetic resonance
Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Reid, E Related Collections Genetics Journal of Medical Genetics The hereditary spastic paraplegias are a group of neurodegenerative conditions that all share the principal clinical feature of progressive lower limb spastic paralysis, caused by either failure of development or progressive degeneration of the corticospinal tract. The conditions are characterised by extreme genetic heterogeneity
Spastic Paresis - A Collection Of References using dilute procaine indicate that spastic paralysis in goats is caused by More recently, the condition was reported in two familial related Pygmy http://kinne.net/paresis.htm
Extractions: College of Veterinary Medicine, Michigan State University, East Lansing, MI Spastic paresis is reported for the first time in goats from North America. It was concluded that spastic paresis in goats shares many similarities with the disease in cattle. The possibility of inheritance is suggested by 2 of the goats being related. Results of surgical desafferentation indicate that the defect is in the myotatic reflex (stretch reflex). Results from the epidural block using dilute procaine indicate that spastic paralysis in goats is caused by a relative over-stimulation (or lack of inhibition) of the gamma efferent motor neurons.
Extractions: Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Ghiso, J. A. Articles by Frangione, B. Systemic Amyloid Deposits in Familial British Dementia
Extractions: Protocol Number: 96-N-0089 Characteristics of Idiopathic Familial Voice Disorders 96-N-0089 The purpose the study is to determine the genetic causes of specific voice disorders that run in families. Researchers are particularly interested in two conditions; 1. Spasmodic dysphonia 2. Vocal fold paralysis Familial vocal fold paralysis can be a life-threatening disorder that can cause difficulty with vocal fold movement for breathing and voice and sometimes for swallowing. Studies are ongoing at the NIH to better understand the pathophysiology and to relate it to the genetic pattern of inheritance. Families are being recruited to participate in these studies and are being provided with further information on the disorder and genetic counseling if desired. Physician referral is requested for affected members of families with vocal fold paralysis of an unknown cause occurring over at least 2 generations. All travel, lodging, examination and counseling costs are covered for both affected and unaffected members of a family. Examinations include: voice, laryngeal, neurological, electrodiagnostic testing, genetic counseling, and radiological studies. Referral Letter Required: Yes Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Symptoms present during speech and not apparent at rest
Extractions: Total Arabs Indians Encephalitis, myelitis and encephalomyelitis Meningitis Late effects of intracranial abcesss or pyogenic infection Herditary ataxia Hereditary diseases of the striato- pallidal system Hereditary neuromuscular disorders Other diseases of C N S Other cerebral paralysis Paralysis agitans Cerebral spastic infantile paralysis Epilepsy Migraine Other disease of brain Other diseases of spinal cord Motor neurone disease Diseases of nerves and peripherial ganglia Other diseases of of peripherial nerves except autonomic Facial paralysis Trigeminal neuralgia Sciatica Diseases of peripherial autonomic nervous system Inflammatory diseases of the eye Choroiditis Other inflammtion of uveal tract Blepharitis Hordeolum Keratitis Iritis Inflammation of lacrimal glands and ducts Other inflammatory diseases of eye Cataract Detachment of retina Blindness Glaucoma Corneal opacity Strabismus Pterygium Refractive errors Otitis media without mention of mastoiditis Other deafness Mastoiditis without mention of otitis media
