scholarly journals DCTN1-related Parkinson-plus disorder (Perry syndrome)

2020 ◽  
Vol 20 (4) ◽  
pp. 317-319
Author(s):  
Daniel Richardson ◽  
Meriel M McEntagart ◽  
Jeremy D Isaacs
Keyword(s):  
Weight Loss ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
Ventilatory Support ◽  
Mood Change ◽  
Worldwide Distribution ◽  
Improve Life Expectancy ◽  
Incorrect Diagnosis ◽  
Ventilatory Insufficiency ◽  
Central Hypoventilation

Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is the predominant cause of death. It has been previously described in 87 people from 20 families with a worldwide distribution. It is now recognised as a distinct TDP-43 proteinopathy caused by a pathological mutation in DCTN1. Its rarity and clinical overlap with other neurodegenerative diseases increase the risk of delayed or incorrect diagnosis. Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report a patient with DCTN1-related Parkinson-plus disorder, in whom genetic confirmation came only after death.

scholarly journals Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Karin Ljubič ◽  
Iztok Fister ◽  
Iztok Fister
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Controller ◽  
Future Challenges ◽  
The Central Nervous System ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Cardiovascular Functions

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

scholarly journals A report on a case of Giardia duodenalis

2017 ◽  
Vol 7 (2) ◽  
pp. 1218-1220
Author(s):  
Sujata Pudasaini ◽  
Rakesh Pathak ◽  
Satyam Upadhyaya ◽  
Anna Sharma
Keyword(s):  
Weight Loss ◽  
Developing Countries ◽  
Giardia Lamblia ◽  
Clinical Presentation ◽  
Giardia Duodenalis ◽  
Duodenal Biopsy ◽  
Histopathological Diagnosis ◽  
Intestinal Protozoan ◽  
Worldwide Distribution ◽  
Common Causes

ABSTRACTGiardia is caused by protozoa, Giardia lamblia. It is one of the most common causes of water born or food born diarrhea and it has a worldwide distribution. The prevalence is approximately 20-30% in developing countries. Giardia duodenalis is the most commonly reported intestinal protozoan in humans mainly affecting children. The infection is usually associated with malabsorption, weight loss and growth retardation.We report a case of four years old boy who presented with diarrhea and malabsorption for last 2 years. Its clinical presentation and histopathological diagnosis on duodenal biopsy is discussed.

Autosomal dominant tauopathy with parkinsonism and central hypoventilation

Neurology ◽  
2012 ◽  
Vol 78 (10) ◽  
pp. 762-764 ◽  
Author(s):  
M. Omoto ◽  
S. Suzuki ◽  
T. Ikeuchi ◽  
T. Ishihara ◽  
T. Kobayashi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Central Hypoventilation

Genetics and Molecular Biology of Alzheimer's Disease and Frontotemporal Lobar Degeneration

2010 ◽  
Vol 5 (1) ◽  
pp. 12
Author(s):  
Daniela Galimberti ◽  
Chiara Fenoglio ◽  
Elio Scarpini ◽  
◽  
◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Frontotemporal Lobar Degeneration ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
The Elderly ◽  
Apolipoprotein E Gene ◽  
Autosomal Dominant Fashion ◽  
Ε4 Allele ◽  
Presenilin 2

Alzheimer's disease (AD) is the most common cause of dementia in the elderly, whereas frontotemporal lobar degeneration (FTLD) is the most frequent neurodegenerative disorder with a pre-senile onset. The two major neuropathological hallmarks of AD are extracellular amyloid beta plaques and intracellular neurofibrillary tangles. In FTLD the deposition of tau has been observed in a number of cases, but in several brains there is no deposition of tau but instead a positivity for ubiquitin. In some families these diseases are inherited in an autosomal dominant fashion. Genes responsible for familial AD include the amyloid precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2), whereas the main genes responsible for familial FTLD are microtubule-associated protein tau gene (MAPT) and progranulin (GRN). Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. A number of additional genetic factors contribute to susceptibility for AD and FTLD.

Familial parkinsonism, apathy, weight loss, and central hypoventilation: Successful long-term management

Neurology ◽  
1988 ◽  
Vol 38 (4) ◽  
pp. 637-637 ◽  
Author(s):  
E. P. Roy ◽  
J. E. Riggs ◽  
J. D. Martin ◽  
R. A. Ringel ◽  
L. Gutmann
Keyword(s):  
Weight Loss ◽  
Central Hypoventilation ◽  
Term Management

Japanese family with parkinsonism, depression, weight loss, and central hypoventilation

Neurology ◽  
2002 ◽  
Vol 58 (7) ◽  
pp. 1025-1030 ◽  
Author(s):  
Y. Tsuboi ◽  
Z. K. Wszolek ◽  
T. Kusuhara ◽  
K. Doh-ura ◽  
T. Yamada
Keyword(s):  
Weight Loss ◽  
Japanese Family ◽  
Central Hypoventilation

scholarly journals Role of Genes and Treatments for Parkinson’s Disease

2020 ◽  
Vol 8 (1) ◽  
pp. 47-65
Author(s):  
Falaq Naz ◽  
Yasir Hasan Siddique
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Substantia Nigra ◽  
Dopaminergic Neurons ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
Treatment Strategies ◽  
Number Of Genes ◽  
Permanent Cure

Parkinson’s Disease (PD) is a complex neurodegenerative disorder that mainly results due to the loss of dopaminergic neurons in the substantia nigra of the midbrain. It is well known that dopamine is synthesized in substantia nigra and is transported to the striatum via nigrostriatal tract. Besides the sporadic forms of PD, there are also familial cases of PD and number of genes (both autosomal dominant as well as recessive) are responsible for PD. There is no permanent cure for PD and to date, L-dopa therapy is considered to be the best option besides having dopamine agonists. In the present review, we have described the genes responsible for PD, the role of dopamine, and treatment strategies adopted for controlling the progression of PD in humans.

scholarly journals Implications of the Orb2 Amyloid Structure in Huntington’s Disease

2020 ◽  
Vol 21 (18) ◽  
pp. 6910
Author(s):  
Rubén Hervás ◽  
Alexey G. Murzin ◽  
Kausik Si
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Autosomal Dominant ◽  
Neurodegenerative Disorder ◽  
Structural Data ◽  
Cag Repeat ◽  
Functional Amyloid ◽  
Drosophila Brain ◽  
Structural Insight ◽  
The Brain

Huntington’s disease is a progressive, autosomal dominant, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. As a result, the translated protein, huntingtin, contains an abnormally long polyglutamine stretch that makes it prone to misfold and aggregating. Aggregation of huntingtin is believed to be the cause of Huntington’s disease. However, understanding on how, and why, huntingtin aggregates are deleterious has been hampered by lack of enough relevant structural data. In this review, we discuss our recent findings on a glutamine-based functional amyloid isolated from Drosophila brain and how this information provides plausible structural insight on the structure of huntingtin deposits in the brain.

scholarly journals 0874 Patients with Congenital Central Hypoventilation Syndrome Do Not Wake Up to Ventilator Alarms

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A333-A333
Author(s):  
S K Mathur ◽  
S Kun ◽  
T G Keens ◽  
I A Perez
Keyword(s):  
Pulse Oximetry ◽  
Sleep Disturbances ◽  
Ventilatory Support ◽  
Tube Feeding ◽  
Low Frequency ◽  
Congenital Central Hypoventilation Syndrome ◽  
Diaphragm Pacing ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Night Waking

Abstract Introduction Congenital Central Hypoventilation Syndrome (CCHS) requires lifelong ventilatory support during sleep. CCHS patients are vulnerable to sleep disturbances associated with treatments, monitoring alarms, and care they receive. We hypothesized that sleep would be disrupted in CCHS patient’s due to ventilatory support and other treatments at night. Methods An anonymous survey of CCHS patients aged 0-17 years was conducted through REDCAP. Patients were recruited in person, by flyer, email, and social media. Data collected included demographics, PHOX2B genotype, ventilatory support, treatments, nursing, and sleep parameters. Results We received 22 responses (27% Female, 8.1 years ± 5.7). PHOX2B genotypes were 20/27 PARM (8), 20/26 PARM (2), 20/24 PARM (2), 20/25 PARM (4), ≥ 20/28 PARM (2), and 2 NPARM (2). Two respondents did not indicate the PHOX2B genotype. 13/22 were ventilated by PPV via tracheostomy, 7/22 by BPAP, and 2/22 by diaphragm pacing. Additional treatments received at night included suctioning (8), aerosol (1), G-tube feeding (2), and none (11). Only 9 received nursing at night. 13 used pulse oximetry for monitoring, and 9 used both pulse oximetry and end tidal CO2 monitor. 16/22 rarely woke up due to ventilator or monitor alarms. 15/22 slept within 20 minutes after going to bed. Sleep latency was not affected by mode of ventilation. 11/22 reported night waking ≥ 2 nights/week and 10/22 returned to sleep without help after night waking. 6/7 BPAP dependent patients reported low frequency of night waking (0-1 time/week). Of the PPV + trach group, 7/13 reported high frequency of night wakings, mostly 5-7 times/week. Conclusion Most CCHS patients do not awaken in response to ventilator alarms. Sleep is rarely disrupted by nursing or feeding intervention. We speculate that CCHS patients contemplating to live independently should be tested to see if they awaken in response to ventilator alarms. Support None

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