Fahr´s Syndrome Health News

Health News Posted on May 16, 2022 -

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Fahr's Syndrome

Fahr''s syndrome is a rare, neurological disorder first described by Karl Theodor Fahr, a German neurologist in 1930.

What is Fahr's Syndrome? | Inheritance and Genetics | Etiology / Causes | Diagnosis | Management

Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic Disorder

Riluzole, a repurposed ALS (amyotrophic lateral sclerosis) drug may help slow down a rare genetic disorder called Niemann-Pick disease type C1 (NPC1 – characterized by the gradual loss of a particular brain cell) in children and adolescents, as per ...

New Genetic Disorder Affects Brain and Craniofacial Skeleton

New genetic disorder is characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), the disorder is caused by a ...

Antiepileptic Drug Holds Promise in Treating ALS

Ezogabine reduces the excitability of cortical and spinal motor neuron cells and holds potential in treating amyotrophic lateral sclerosis (ALS), according to a study conducted by the Neurological Clinical Research Institute of Massachusetts General ...

FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

The US Food And Drug Administration (FDA) has approved lumasiran subcutaneous injection to treat adults and children with primary hyperoxaluria type 1 (PH1) - an ultra- rare genetic disorder. PH1 causes recurrent kidney stones and loss of kidney ...

Scientists Reveal the Way Stem Cells Protect Chromosome Ends

Telomeres, the specialized structures at the end of chromosomes which protect our DNA and ensure healthy division of cells, are protected in a unique way, as per the new study from researchers at the Francis Crick Institute published in Nature . ...

Antiepileptic Drug During Pregnancy Ups Neurodevelopmental Disorder Risk

Intake of antiepileptic medication sodium valproate during pregnancy increases the risk of developing neurodevelopmental disorders in early childhood, reports a study in Scientific Reports. Study Details Fifty of the 991 French ...

New Treatment Benefits Patients With Rare Genetic Disorder

In patients with a rare and aggressive form of leukodystrophy, a class of targeted therapy drugs could help improve their neurological function, revealed new findings published today in the New England Journal of Medicine. ...

Antiepileptic Drugs Up Mortality Risk in Patients With Alzheimer's disease

Antiepileptic drugs raise the risk of death among persons with Alzheimer’s disease, according to a new study from the University of Eastern Finland, published in Neurology . The mortality risk increased considerably during the first three ...

Study Offers Fresh Insights into Chromosome 21 and Its Effect on Down Syndrome

In mice with Down syndrome, the specific regions of chromosome 21, which cause memory and decision-making problems, have been discovered by UCL researchers. This finding provides valuable new insight into the condition in humans. Most people ...

Mothers Taking Antiepileptic Drugs can Safely Breastfeed

Antiepileptic drug (AED) exposure in infants who were breastfed by mothers with epilepsy doesnt produce any adverse effects, according to a study in JAMA Neurology , done by the research team at the University of Minnesota. For mothers with ...

Milk or No Milk for Babies With a Rare Type of Genetic Disorder

Children with Duarte galactosemia, a genetic disorder, are not at a higher risk of long-term developmental abnormalities than their unaffected siblings, regardless of their exposure to milk as infants, finds a new study. The findings published in ...

Chromosome Scanner That Protects Against Cancer Discovered

One of the main mechanisms behind the repair of serious damage to the human DNA discovered by University of Copenhagen researchers. A 'scanner' inside the cells decides whether or not so-called flawless DNA repair, which protects against cancer, is ...

Antiepileptic Drug Use and Dementia Not Linked

In over 100,000 patients followed in general and neuropsychiatrist practices in Germany no link was found between antiepileptic drug use and dementia risk. Epilepsy is a common neurological condition with a prevalence of around 2%. However, ...

Common Genetic Disorder Puts Elderly At Risk of Various Long-Term Diseases

People those who are old and those who may have a genetic disorder called hemochromatosis tend to be at an increased risk of liver disease, arthritis, and frailty. The results of this study are published in the journals of BMJ and The Journals of ...

Link Between Prenatal Exposure to Antiepileptic Drugs and ADHD in Children Examined

The absolute 15-year risk of attention-deficit/hyperactivity disorder (ADHD) in children exposed to valproate in pregnancy was higher than those not exposed to the drug, found new study. This study examined whether prenatal exposure to ...

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