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torsdag 11 maj 2023

Synukleiinit mainitaan päivän Ruotsinsuomalaisessa lehdessä. Synukleinopatia antaa oireena Parkinsonin taudille tyypillisiä oireita

 Siteeraan  artikkelin, joka kertoo suomalaisesta tutkimuksesta neurotieteiden alalla. Aikoinaan professori Urpo Rinne  luennoi 1965 neuroanatomiaa meidän medisiinarikurssillemme  ja hänen  henkilökohtainen tieteellinen kiinnostuksensa kohdistui Parkinsonin taudin selvittelyyn. RS- lehti kertoo  hankinnaisen PD-taudin ( siis ei geneettisen)  etiologioassa voivan olla erästä bakteerilajia, desulfovibriota, ja lysosomaalisen alfasynukleiinin aggrekoitumista  Professori Per Saris Helsingin yliopistosta johtaa  tutkijaryhmää.

https://www.malacards.org/card/parkinson_disease_1_autosomal_dominant

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Parkinson Disease 24, Autosomal Dominant Juvenile-Onset Parkinson's Disease
Early-Onset Parkinson's Disease Vps35-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease, Late-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1880)

Summaries:

MedlinePlus: 41 Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, often on one side of the body. Later they affect both sides. They include: Trembling of hands, arms, legs, jaw and face Stiffness of the arms, legs and trunk Slowness of movement Poor balance and coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking. There is no specific test for PD, so it can be difficult to diagnose. Doctors use a medical history and a neurological examination to diagnose it. PD usually begins around age 60, but it can start earlier. It is more common in men than in women. There is no cure for PD. A variety of medicines sometimes help symptoms dramatically. Surgery and deep brain stimulation (DBS) can help severe cases. With DBS, electrodes are surgically implanted in the brain. They send electrical pulses to stimulate the parts of the brain that control movement. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary: Parkinson Disease, Late-Onset, also known as parkinson disease, is related to hereditary late-onset parkinson disease and parkinson disease 3, autosomal dominant, and has symptoms including tremor, constipation and myoclonus. An important gene associated with Parkinson Disease, Late-Onset is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Parkinson's disease pathway and Degradation pathway of sphingolipids, including diseases. The drugs Idebenone and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include Brain and subthalamic nucleus, and related phenotypes are hallucinations and abnormal autonomic nervous system physiology

MedlinePlus Genetics: 42 Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.

UniProtKB/Swiss-Prot: 73 A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.

PubMed Health : 63 Parkinson's: Parkinson's is a disease of the nervous system that mostly affects older people. It typically begins after the age of 50. The disease can be very hard to live with because it severely restricts mobility and as a result makes daily activities increasingly difficult. Parkinson's is a progressive disease, which means that in most cases it will continue to gradually get worse. Many people who develop Parkinson’s will require nursing care. There is no cure for the disease and its exact cause is not known, but there are effective treatments that can relieve the symptoms.

NINDS: 52 Parkinson's disease (PD) is movement disorder of the nervous system that gets worse over time. As nerve cells (neurons) in parts of the brain weaken, are damaged, or die, people may begin to notice problems with movement, tremor, stiffness in the limbs or the trunk of the body, or impaired balance. As symptoms progress, people may have difficulty walking, talking, or completing other simple tasks. Not everyone with one or more of these symptoms has PD, as the symptoms appear in other diseases as well.

OMIM®: 57 Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). (168600) (Updated 26-Feb-2023)

Disease Ontology 11 Late onset parkinson's disease: A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.

Parkinson's disease: A synucleinopathy that has material basis in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.

Wikipedia: 75 Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central... more...

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