Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP. [books.google.com]

Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder. Coenzyme A (CoA) synthase (gene: CoASY ) is a cofactor involved in enzymatic reactions. [radiopaedia.org]

Means are therefore presented for all values, except for the time from the appearance of the first clinical criterion to the diagnosis of SLE, for which mean and median values are presented. [nejm.org]

However, the results of the present study suggested that there is no uniform pattern of changes in methylation due to aging; it varies with the gene. [journals.plos.org]

Treatment considerations in BPAN •In childhood, the most challenging problem is refractory seizures, although only present in a minority of patients. [slideshare.net]

• Difficulty Walking

  walking Difficulty in walking 0002355 Dysarthria Difficulty articulating speech 0001260 Eye of the tiger anomaly of globus pallidus 0002454 Obsessive-compulsive behavior Obsessive compulsive behavior 0000722 Oromandibular dystonia 0012048 Parkinsonism [rarediseases.info.nih.gov]

• Aspiration

  […] drugs for parkinsonism for: Adverse neuropsychiatric effects Psychiatric symptoms Worsening of parkinsonism Nutrition Monitoring of height and weight in children Swallowing evaluation and regular dietary assessments Assure adequate nutrition Prevent aspiration [nbiacure.org]

• Muscle Rigidity

  MalaCards based summary : Coasy Protein-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation 6, is related to neurodegeneration with brain iron accumulation 6, and has symptoms including muscle rigidity, paraparesis [malacards.org]

  rigidity 0002063 Spastic tetraplegia 0002510 Toe walking Toe-walking 0040083 Showing of 25 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  Spasticity and muscle rigidity usually begin in the legs and later develop in the arms. Parkinsonism is a condition marked by tremor, slowness, rigidity and poor balance. [nbiadisorders.org]

• Vascular Disease

  diseases (4) Other Diseases Novel targets and therapeutics for genetic rare diseases, gut microbiome-related diseases, stroke and anemia (5) Cell Therapy Research on novel mesenchymal stem cell, novel somatic stem/progenitor cells, and adoptive T-cell [pharmanews.eu]

  With vascular changes it is same thing: Right now with the best MRI and imaging tools, we can only detect certain types of vascular disease, and yet the kind we see in older people are tiny microinfarcts that we often miss. [alzforum.org]

• Muscle Cramp

  Dystonia describes involuntary muscle cramping that may force certain body parts into unusual, and sometimes painful, movements and positions. [nbiadisorders.org]

• Muscle Spasm

  Muscle spasms combined with decreased bone mass can result in bone fractures not caused by trauma or accident. [nbiadisorders.org]

• Compulsive Behavior

  Affiliated tissues include brain, caudate nucleus and thalamus, and related phenotypes are obsessive-compulsive behavior and dysarthria [malacards.org]

  behavior Obsessive compulsive behavior 0000722 Oromandibular dystonia 0012048 Parkinsonism 0001300 Peripheral axonal neuropathy 0003477 Spastic paraparesis 0002313 5%-29% of people have these symptoms Pes cavus High-arched foot 0001761 Percent of people [rarediseases.info.nih.gov]

  behavior CAUSE/GENETICS The human body is made up of millions of cells. [nbiacure.org]

  behavior Not very common - Between 30% and 50% cases Paraplegia Commonly - More than 50% cases Motor axonal neuropathy Not very common - Between 30% and 50% cases Oromandibular dystonia And 26 more phenotypes. [mendelian.co]

• Compulsive Disorder

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

  Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder. Coenzyme A (CoA) synthase (gene: CoASY ) is a cofactor involved in enzymatic reactions. [radiopaedia.org]

• Impulsivity

  […] several doses each day In the intrathecal method, an implanted baclofen pump delivers medication directly into the spinal fluid Deep brain stimulation Used increasingly more often in NBIA and has some evidence for benefit A stimulator sends electrical impulses [nbiacure.org]

  They are also more likely to have behavior changes, such as being impulsive, not being able to pay attention for long periods of time or becoming depressed, which may require treatment by a doctor. [nbiadisorders.org]

• Dystonia

  She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

  The therapies for managing dystonia vary in method and success rate. [nbiacure.org]

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.Visit the Orphanet [malacards.org]

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

  Unlike classic INAD, these “atypical” individuals usually have dystonia. [nbiadisorders.org]

• Cognitive Impairment

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.Visit the Orphanet [malacards.org]

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

  The cognitive impairment is ascertained by medical history, mental status examination or neuropsychological testing. Cognitive impairments identified in 1 interfere markedly with day-to-day functioning. [en.wikipedia.org]

  Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder. Coenzyme A (CoA) synthase (gene: CoASY ) is a cofactor involved in enzymatic reactions. [radiopaedia.org]

  impairment More research is needed to determine the level of impairment Obsessive-compulsive behavior CAUSE/GENETICS The human body is made up of millions of cells. [nbiacure.org]

• Bradykinesia

  […] summary : Coasy Protein-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation 6, is related to neurodegeneration with brain iron accumulation 6, and has symptoms including muscle rigidity, paraparesis, spastic and bradykinesia [malacards.org]

  0001300 Peripheral axonal neuropathy 0003477 Spastic paraparesis 0002313 5%-29% of people have these symptoms Pes cavus High-arched foot 0001761 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Bradykinesia [rarediseases.info.nih.gov]

  […] including stuttering, slurring, or soft or raspy speech Axonal neuropathy Nerve cells begin to function abnormally because the axons (which send signals from one nerve cell to another) are deteriorating Parkinsonism (symptoms similar to Parkinson’s disease) Bradykinesia [nbiacure.org]

  Top 5 symptoms associated to COASY gene Symptoms // Phenotype % Cases Autosomal recessive inheritance Very Common - Between 80% and 100% cases Toe walking Very Common - Between 80% and 100% cases Tetraplegia Very Common - Between 80% and 100% cases Bradykinesia [mendelian.co]

  The same is true for someone with bilateral rigidity and bradykinesia who fails to respond to levodopa and has some sort of nonspecific, undiagnosable visual symptoms or dizziness. [psp-blog.org]

• Dysarthria

  Affiliated tissues include brain, caudate nucleus and thalamus, and related phenotypes are obsessive-compulsive behavior and dysarthria [malacards.org]

  The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. [rarediseases.info.nih.gov]

  (stiff or rigid muscles), dystonia (involuntary muscle contraction and spasms), and weakness Develops early in the disease Oro-mandibular dystonia Involuntarily muscle contraction and spasms of the mouth, jaw and tongue Develops later in the disease Dysarthria [nbiacure.org]

  Dystonia affects the muscles in the mouth and throat, which may cause poor articulation and slurring (dysarthria), and difficulty swallowing (dysphagia). [nbiadisorders.org]

  •FAHN typically begins with focal dystonia and gait impairment. • Ataxia follows, and dysarthria and progressive spastic quadriparesis with pyramidal tract signs develop. [slideshare.net]

• Spastic Paraplegia

  More info about this panel Spastic Paraplegia Panel Panel By Blueprint Genetics in Finland. [mendelian.co]

  […] bpg-method Plus Analysis (Sequence Del/Dup (CNV)) Test code: S02224 Phenotype information Neurodegeneration with brain iron accumulation 6 Alternative gene name DPCK, NBP, CoASY, PPAT Panels that include the gene Ataxia Panel Spastic Paraplegia Panel [blueprintgenetics.com]

  A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. [ncbi.nlm.nih.gov]

  •FA2H-genemutations have also been associated with leukodystrophies and hereditary spastic paraplegia, thus leading to an overlapping clinical picture. 57. [slideshare.net]

MANAGEMENT There is no standard treatment for CoPAN. Diagnosed individuals are managed by a team of medical professionals that recommends treatments based on current symptoms. [nbiacure.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Summary: A new treatment option is being trialled by the NIHR and Roche, for rheumatoid arthritis patients who have previously not responded to standard treatment. [nihr.ac.uk]

Rinne UK, Bracco F, Chouza C, Dupont E, Gershanik O, Masso J et al. (1997) Cabergoline in the treatment of early parkinsons disease: results of the first year of treatment in a double blind comparison of cabergoline and levodopa. [link.springer.com]

Treatment may require the coordinated efforts of a team of specialists. [nbiadisorders.org]

Hepatocellular carcinoma (HCC) is a hypervascular tumor associated with a poor prognosis and a lack of effective treatments. Consequently, identifying novel therapeutic strategies are urgently needed. [web.hku.hk]

Latov N (2000) Prognosis of neuropathy with monoclonal gammopathy. Muscle Nerve 23: 150–152. PubMed CrossRef Google Scholar 4. [link.springer.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

Portier F, Faulcon P, Lamblin B, Bonfils P (2000) Semiologie, etiologies et evolution des parosmies: a propos de 84 cas. Ann Otolaryngol Chir Cervicofac 117: 12–18. PubMed Google Scholar Literatur 1. [link.springer.com]

You are raising the concept of heterogeneity of Alzheimer’s disease and its characteristic etiology. We issued an FOA among the 2016 group of 10 that is asking for research to address that very question. That will be a recurring theme. [alzforum.org]

Relevant External Links for COASY Genetic Association Database (GAD) COASY Human Genome Epidemiology (HuGE) Navigator COASY Atlas of Genetics and Cytogenetics in Oncology and Haematology: COASY No data available for Genatlas for COASY Gene Complete reconstitution [genecards.org]

The observed effect was strongest in those who consumed more than seven cups of green tea daily, a 2011 meta-analysis of epidemiological studies found limited evidence that green tea consumption may be associated with a moderately reduced risk of liver [wikivisually.com]

Wulff EA, Wang AK, Simpson DM (2000) HIV-associated peripheral neuropathy: epidemiology, pathophysiology and treatment. Drugs 59: 1251–1260. PubMed Google Scholar Literatur 1. [link.springer.com]

Of course, a huge potential market exists in the ascendancy of AD as a major epidemiologic challenge for the Boomer Generation and beyond. [psp-blog.org]

Epidemiology • Estimated prevalence of 1-3/ million population has been suggested based on observed cases in a population. • PKAN: highest prevalence & founder mutation in Central Europe • Neuroferritinopathy is classically seen in patients from the Cumbrian [slideshare.net]

The varying pathophysiology of these disorders is also reflected in the variable response to therapy, which ranges from complete cure in acrodermatitis enteropathica to the virtual absence of effective treatment options in molybdenum cofactor deficiency [accesspediatrics.mhmedical.com]

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) •Beta-propeller protein-associated neurodegeneration is unique among the NBIAs in its mode of inheritance, its presumed pathophysiology. [slideshare.net]

Our research unit “Molecular Pathophysiology of Neurodegenerative Disorders” has investigated the molecular pathogenesis of abnormal protein accumulation in the nervous system in neurodegenerative diseases to facilitate the analyses of pathogenic substances [ura.sec.tsukuba.ac.jp]

Nevertheless, the pathophysiological mechanism of XAF1 is still not clear. XAF1 is a 37kDa nuclear protein, comprising of 317 amino acids and having two mRNA spicing variants (16). The domain architecture and structure of XAF1 is unknown. [web.hku.hk]

Protein coding - K7EN91 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]

PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. [string-db.org]

[…] dopaminergic drugs for parkinsonism for: Adverse neuropsychiatric effects Psychiatric symptoms Worsening of parkinsonism Nutrition Monitoring of height and weight in children Swallowing evaluation and regular dietary assessments Assure adequate nutrition Prevent [nbiacure.org]

[3] and has only been seen in 1–2% of India-based infections. [4] [5] With the advent of highly active antiretroviral therapy (HAART), the incidence of ADC has declined in developed countries, although its prevalence is increasing. [6] [7] HAART may prevent [en.wikipedia.org]

It induced EC apoptosis via the up-regulation of β-amyloid binding protein (BBP), as knocking down BBP gene expression prevented rAAV-HGFK1 induced EC apoptosis. [web.hku.hk]