Presentation
Photo credit: W.CC/Wikimedia (CC by SA 4.0) Research presented at ASHG 2016 highlights potential new treatment for the debilitating Niemann-Pick disease. [thescienceexplorer.com]
Histiocytes are cells that are part of the reticuloendothelial system and are responsible for phagocytosis and antigen presentation. [embryo.asu.edu]
A buildup of Aβ within cells causes inflammation, leading to cell destruction by the immune system. [5] Proteins associated with Pick's disease are present in all nerve cells, but those with the disease have an abnormal amount. [4] Mutations in the tau [en.wikipedia.org]
Results Demographic Data Demographic data are presented in Table 2. [ajnr.org]
Clinical presentation depends on the particular pattern of cortical involvement, and is discussed in the frontotemporal lobar degeneration (FTLD) article. [radiopaedia.org]
Immune System
- Splenomegaly
Because control sonography disclosed persistent splenomegaly, we considered the diagnosis of Niemann-Pick disease type C or Gaucher disease. [jnnp.bmj.com]
Entire Body System
- Swelling
Symptoms may include: Abdominal (belly area) swelling within 3 to 6 months Cherry red spot at the back of the eye ( on the retina ) Feeding difficulties Loss of early motor skills (gets worse over time) Type B symptoms are usually milder. [mountsinai.org]
Also, Pick bodies and neuron swelling are difficult to detect in a living person, so Pick disease may go undiagnosed or be misdiagnosed. People with Pick disease are sometimes thought to have Alzheimer disease. [checkorphan.org]
Also, Pick bodies and neuron swelling are difficult to detect in a living person, so Pick disease may go undiagnosed or be misdiagnosed. People with Pick disease are sometimes thought to have Alzheimer's disease. [emedicinehealth.com]
You can swell your eyelids, you can redden the skin of your forehead, scalp and ear pill. You can also swell your submaxillary and hyperuricular lymph nodes. Treatment of erysipelas with antibiotics. [farmacianaturala70.blogspot.ro]
- Fatigue
For example, they may check and treat you for: depression and other mood disorders anemia, which can cause fatigue, headaches, moodiness, and difficulty concentrating nutritional disorders thyroid disorders decreased oxygen levels kidney or liver failure [healthline.com]
It is typically preceded by a period of several weeks in which the patient complains of unusual fatigue, anxiety, loss of appetite, or difficulty concentrating. [minddisorders.com]
Borage, as a herb is a nervous tonic .A diet tea ( infusion ), help in treating necrosis and nervous fatigue. At the same time the plant has diuretic effect, blood supply and favors sweating. [farmacianaturala70.blogspot.ro]
- Lymphadenopathy
Given the combination of rapid neurologic degeneration, lymphadenopathy, and hepatosplenomegaly, the individual is incapable of living past the age of three. [embryo.asu.edu]
Respiratoric
- Respiratory Insufficiency
He died at 17 years of age from cardio-respiratory insufficiency. Gross pathology and histology of the internal organs were compatible with Niemann-Pick’s disease. [sciedupress.com]
Gastrointestinal
- Dysphagia
[…] speech (dysarthria) Learning difficulties and progressive intellectual decline (cognitive dysfunction/dementia) Sudden loss of muscle tone which may lead to falls (cataplexy) Tremors accompanying movement and, in some cases, seizures Swallowing problems (dysphagia [npuk.org]
As the disease worsens other devastating symptoms develop including loss of the ability to speak (Aphasia), swallow (Dysphagia), laugh, remember (dementia), trouble moving eyes (Vertical Gaze Palsy) and often seizures occur. [bripardun.com]
Individuals may exhibit weakness, muscle loss (atrophy), tiny involuntary muscle twitches (fasciculation), difficulty speaking (dysarthria) and difficult swallowing (dysphagia). [rarediseases.org]
Liver, Gall & Pancreas
- Jaundice
Symptoms of Niemann-Pick Disease Type C (NP-C) vary with age of onset and from patient to patient.They may include: Jaundice at (or shortly after) birth An enlarged spleen and/or liver (hepatosplenamegaly) Difficulty with upward and downward eye movements [npuk.org]
Children with NPC may have difficulty moving their eyes up and down and may also have jaundice, seizures, difficulty breathing, and other symptoms. [chp.edu]
Symptoms may include: Difficulty moving limbs that may lead to unsteady gait, clumsiness, walking problems Enlarged spleen Enlarged liver Jaundice at (or shortly after) birth Learning difficulties and intellectual decline Seizures Slurred, irregular speech [mountsinai.org]
Niemann-Pick Disease In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy [embryo.asu.edu]
Photo: Wikimedia Commons Symptoms of Niemann Pick Type C Disease Enlarged liver and/or spleen Liver failure without neurological symptoms Difficulties with speech Development of dementia Seizures Jaundice at birth Early development of neurological problems [bripardun.com]
Psychiatrical
- Distractibility
The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic) and includes inappropriate social behavior; lack of social tact; lack of empathy; distractability; loss of insight into the behaviors of oneself [medicinenet.com]
It also includes inappropriate social behavior; lack of social tact; lack of empathy; distractibility; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted [secure.ssa.gov]
Types of FTD Four disorders that fall into the FTD category include: Symptoms of FTD People with FTD often demonstrate socially inappropriate behavior, such as tactless comments, lack of insight or empathy, distractibility, increased interest in sex, [verywell.com]
[…] neglecting personal hygiene, overeating, or loss of motivation language problems – speaking slowly, struggling to make the right sounds when saying a word, getting words in the wrong order, or using words incorrectly problems with mental abilities – getting distracted [nhs.uk]
- Inappropriate Laughter
laughter 0000748 Irritability Irritable 0000737 Language impairment 0002463 Neuronal loss in central nervous system Loss of brain cells 0002529 Perseveration 0030223 Personality changes Personality change 0000751 Polyphagia Voracious appetite 0002591 [rarediseases.info.nih.gov]
- Aggressive Behavior
However, pharmacological intervention with psychotherapy depressants is often needed to control aggressive behaviors. [news-medical.net]
Neurologic
- Personality Change
Patients with Pick’s disease may have personality changes so severe that their loved ones do not recognize them as the people they formerly were. [alzheimers.net]
For example, behavioral changes may make it hard to conduct yourself in a socially acceptable manner. Behavior and personality changes are the most significant early symptoms in Pick’s disease. [healthline.com]
In the absence of temporal or frontal lobar atrophy on CTs, all the Pick patients and none of the AD patients had three of five clinical features: presenile onset (before age 66), an initial personality change, hyperorality, disinhibition, and roaming [neurology.org]
Most often, behavioral and personality changes occur first, so usually the first type of treatment is psychiatric instead of neurological. The causes of early onset-dementias fall into three categories: random, genetic, and lifestyle. [goinggentleintothatgoodnight.com]
changes Personality change 0000751 Polyphagia Voracious appetite 0002591 Primitive reflex 0002476 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior [ more ] 0000733 Showing of 18 | Last [rarediseases.info.nih.gov]
- Irritability
Irritable 0000737 Language impairment 0002463 Neuronal loss in central nervous system Loss of brain cells 0002529 Perseveration 0030223 Personality changes Personality change 0000751 Polyphagia Voracious appetite 0002591 Primitive reflex 0002476 Sporadic [rarediseases.info.nih.gov]
You may: Act aggressively toward others Be uninterested in everyday activities Be very aware of everything you do all the time Feel irritable or agitated Have drastic and quick mood swings Have trouble feeling warmth, sympathy, or concern for others Have [webmd.com]
There are medications that can reduce agitation, irritability and/or depression. These treatments should be used to help improve quality of life. [alz.org]
[…] hygiene repetitive or obsessional behaviours, such as humming, hand-rubbing and foot-tapping, or complex routines such as walking exactly the same route repetitively seeming more selfish inability to empathise with others, seeming cold and uncaring irritability [psychologized.org]
[…] coordination in the arms, legs, head, face and upper body Progressive decline in thinking and reasoning skills, including memory, concentration, judgment and the ability to plan and organize Mood disturbances, including depression, anxiety, anger, and irritability [goinggentleintothatgoodnight.com]
- Poor Coordination
These can include muscle weakness, balance issues, tremors, rigidity, muscle spasms, and poor coordination. 11. [pineseducation.org]
Movement-related signs and symptoms may include: Tremor Rigidity Muscle spasms Poor coordination Difficulty swallowing Muscle weakness Causes In frontotemporal dementia, the frontal and temporal lobes of the brain shrink. [mayoclinic.org]
Corticobasal Degeneration Symptoms Symptoms of corticobasal degeneration have features of parkinsonism (poor coordination, muscle rigidity, and shaking), as well as Alzheimer's disease (memory loss, speech difficulty, and trouble swallowing). [onhealth.com]
- Perseveration
Emotional blunting 0030213 Frontotemporal dementia 0002145 Gliosis 0002171 Hyperorality 0000710 Inappropriate laughter 0000748 Irritability Irritable 0000737 Language impairment 0002463 Neuronal loss in central nervous system Loss of brain cells 0002529 Perseveration [rarediseases.info.nih.gov]
[…] following agencies: Eldercare Locator Service - (800) 677-1116 Family Caregiver Alliance, National Center on Caregiving - (800) 445-8106 Picksdisease.org Pick’s Information Page National Alliance for Caregiving Support path, Dementia Multimedia Motor perseveration [emedicinehealth.com]
- Clumsiness
[…] onset and from patient to patient.They may include: Jaundice at (or shortly after) birth An enlarged spleen and/or liver (hepatosplenamegaly) Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy) Unsteadiness of gait, clumsiness [npuk.org]
Symptoms may include: Difficulty moving limbs that may lead to unsteady gait, clumsiness, walking problems Enlarged spleen Enlarged liver Jaundice at (or shortly after) birth Learning difficulties and intellectual decline Seizures Slurred, irregular speech [mountsinai.org]
Treatment
To make a referral please call us on 0800 090 1356 Current Bed Availability Find a treatment location Find a treatment location for Pick's Disease [priorygroup.com]
Symptoms and treatment of Pick’s disease Pick’s disease is a condition closely related to ‘ fronto-temporal lobar degeneration’ (FTLD) and is one of the rarer types of dementia. [clinical-partners.co.uk]
What Is the Treatment for Pick Disease? There is no cure for Pick disease. Treatment is aimed at improving behavior and mood problems and relieving other symptoms. [emedicinehealth.com]
Purpose of Treatment Pick’s disease is known to be incurable. Treatment is geared towards minimizing the symptoms. [startstemcells.com]
There is no treatment for frontotemporal dementia and treatment is directed toward minimizing symptoms. Frontotemporal dementia progresses steadily and often rapidly and is fatal. [medicinenet.com]
Prognosis
Prognosis The prognosis of FTD is poor. Life expectancy ranges anywhere from from two to 20 years after diagnosis, depending on the speed of progression and the presence of other diseases. [verywell.com]
Catching vascular dementia early and preventing further damage makes for a better prognosis. [onhealth.com]
Pick’s Disease Treatment and Prognosis Like Alzheimer’s disease, Pick’s disease is currently untreatable. [alzheimers.net]
What is the Prognosis of Pick's Disease? (Outcomes/Resolutions) The prognosis for an individual with Pick’s Disease is normally grim. [dovemed.com]
What is the prognosis (the outlook) for frontotemporal dementia? The outcome for people with frontotemporal dementia is poor. [medicinenet.com]
Etiology
(Etiology) Pick’s Disease develops on account of mass formation of unusually large quantities of an abnormal form of protein (called tau-protein), in the frontotemporal region nerve cells of the brain These protein formations are termed as Pick’s bodies [dovemed.com]
Pathophysiology
Forecast Stem cell therapy is a promising solution for Pick disease affecting the frontotemporal lobes of the brain since it shares some similarities with the Niemann-Pick disease in the pathophysiology process — both involve a genetic abnormality. [startstemcells.com]
[…] destruction by the immune system. [5] Proteins associated with Pick's disease are present in all nerve cells, but those with the disease have an abnormal amount. [4] Mutations in the tau gene ( MAPT ) have been associated with this disease. [6] [7] Pathophysiology [en.wikipedia.org]
This study establishes the integrity of brain tissue in Niemann-Pick disease type B and suggests that the lysocompound Sphingosylphosphorylcholine could play a role in the pathophysiology of brain dysfunction in the neuronopathic type A. [link.springer.com]
Prevention
Current medical research has not indicated effective preventive measures for Pick's Disease. [dovemed.com]
Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. [books.google.es]
Preventing or delaying dementia Recent research suggests that healthy lifestyle habits and mental stimulation may prevent dementia altogether or at least delay its onset. [helpguide.org]
Prevention The reversible dementias related to thyroid and nutritional disorders can be prevented in many cases by regular physical checkups and proper attention to diet. [minddisorders.com]
This prevents normal blood flow, depriving brain cells of oxygen. Injury - post-traumatic dementia is directly related to brain cell death caused by injury. [medicalnewstoday.com]