Last update 19 Sep 2024

PRRT2

Last update 19 Sep 2024

Basic Info

Synonyms

Dispanin subfamily B member 3, DKFZp547J199, DSPB3

+ [10]

Introduction

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and down-regulate short-term facilitation.

100 Clinical Results associated with PRRT2

100 Translational Medicine associated with PRRT2

0 Patents (Medical) associated with PRRT2

380

Literatures (Medical) associated with PRRT2

01 Sep 2024·Brain and Development

Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey

Article

Author: Komaki, Hirofumi ; Takeshita, Eri ; Suenaga, Yuta ; Saito, Takashi ; Sasaki, Masayuki ; Shimizu-Motohashi, Yuko ; Nakagawa, Eiji ; Yamamoto, Kaoru ; Sumitomo, Noriko ; Baba, Shimpei

OBJECTIVEThis study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing the diagnostic challenges arising from symptom variations and etiological diversity.METHODSFrom 2020 to 2022, questionnaires were distributed to 1218 board certified child neurologists (BCCNs) by Japanese Society of Child Neurology. In the primary survey, participants were asked to report the number of patients with pediatric-onset dystonia under their care. Subsequently, the follow-up secondary survey sought additional information on the clinical characteristics of these patients.RESULTSThe primary survey obtained 550 responses (response rate: 45 %) from BCCNs for their 736 patients with dystonia. The predominant etiologies included inherited cases (with DYT10 being the most prevalent, followed by DYT5 and ATP1A3-related neurologic disorders), acquired cases (with perinatal abnormalities being the most common), and idiopathic cases. The secondary survey provided clinical insights into 308 cases from 82 BCCNs. Infancy-onset dystonia presented as persistent and generalized with diverse symptoms, primarily linked to ATP1A3-related neurologic disorders and other genetic disorders resembling acquired dystonia. Conversely, childhood/adolescent-onset dystonia showed paroxysmal, fluctuating courses, predominantly affecting limbs. The most common etiologies were DYT5 and DYT10 , leading to therapeutic diagnoses.CONCLUSIONPediatric-onset dystonia in Japan was treated by 28 % of BCCNs. The majority of cases were inherited, with high prevalence rates of DYT5 and DYT10 . Infancy-onset dystonia exhibits diverse etiologies and symptoms, emphasizing the utility of various examinations, including genetic testing. These findings significantly contribute to our understanding of pediatric-onset dystonia in Japan, although this study has the limitation of questionnaire survey.

01 Sep 2024·Journal of Gastrointestinal Cancer

Repeat Peptide Receptor Radionuclide Therapy in Neuroendocrine Tumors: A NET Center of Excellence Experience

Article

Author: Dillon, Joseph S ; Loeffler, Bradley T ; Grewal, Udhayvir S ; Chandrasekharan, Chandrikha ; Paschke, Alexander

INTRODUCTIONThe available data for the safety and efficacy of repeat peptide receptor radionuclide therapy (PRRT) are almost exclusively from European centers. We present an updated experience with repeat PRRT in a cohort of US patients with neuroendocrine tumors (NETs) at our NET center of excellence.METHODSWe used our single-center longitudinal NET registry to identify patients who had been previously treated with at least one dose of PRRT (PRRT 1, either ¹⁷⁷Lu DOTATATE or ⁹⁰Y DOTATOC) and following radiographic disease progression were re-treated with a second course of PRRT (PRRT 2). We reviewed patient, tumor and treatment characteristics, objective response rates, and toxicities after PRRT 1 and PRRT 2.RESULTSA total of 11 patients were included in the analysis. 45.5% (5/11) of patients received ¹⁷⁷Lu DOTATATE PRRT only, both for PRRT1 and PRRT 2, while 54.5% (6/11) of patients received ⁹⁰Y DOTATOC PRRT for PRRT1. At first restaging scan after PRRT2 (3-6 months), 18.2% (2/11), 36.4% (4/11), and 27.3% (3/11) of patients had PR, SD, and PD, respectively; 2/11 patients (18.2%) died before the first restaging scan. Therefore, 5/11 (45.5%) patients were noted to have disease progression. Median PFS for PRRT1 was 25.4 months and median PFS for PRRT2 was 13.1 months (p = 0.0001). We did not find a statistically significant difference between the occurrence of short and long-term hematological toxicities as well as renal toxicity after PRRT1 and PRRT2.CONCLUSIONWe show that repeat PRRT may benefit select patients and have an acceptable safety profile. In our cohort, PFS was significantly lower after PRRT2 as compared to PRRT1.

01 Aug 2024·Epilepsia Open

Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes

Article

Author: Lehesjoki, Anna‐Elina ; Jonsson, Henna ; Stjerna, Susanna ; Gaily, Eija ; Johari, Mridul ; Joensuu, Tarja ; Linnankivi, Tarja

AbstractObjectiveInfantile seizures cause great concern for both doctors and parents. In addition to modern neuroimaging and genetics, clinical tools helpful in predicting the course of the disease are needed. We prospectively studied the incidence, electroclinical characteristics and etiologies of epilepsy syndromes with onset before the age of 12 months and looked for prognostic determinants of outcome by age 24 months.MethodsFrom February 2017 through May 2019, we recruited all eligible infants diagnosed with epilepsy at our unit. Data on electroclinical studies, genetic investigations and drug response were gathered prospectively. The infants were given a structured neurological examination (Hammersmith Infantile Neurological examination [HINE] and Griffiths scales) at predetermined intervals until age 24 months at which age neurocognitive evaluation with Bayley scales was performed.ResultsIncluded were 60 infants (27 female). The mean onset age of epilepsy was 5.3 (±2.5 standard deviation) months. The incidence of epilepsy in the population‐based cohort was 131 (95% confidence interval 99–172)/100 000. Epilepsy syndrome was identified in 80% and etiology in 58% of infants. Self‐limited infantile epilepsy was the second most common syndrome (incidence 18/100 000) after infantile epileptic spasms syndrome. PRRT2 was the most common monogenic cause. At age 24 months, 37% of the infants had drug‐resistant epilepsy (DRE) and half had a global developmental delay (GDD). Abnormal first HINE was the strongest predictor of GDD, followed by DRE and identified etiology. DRE was associated with structural etiology and GDD. Those with normal first HINE and good response to treatment had favorable outcomes, irrespective of the identified etiology.SignificanceOur results support a high incidence of self‐limited epilepsy in infancy and PRRT2 as the genetic cause in the first year of life. Notwithstanding the advances in etiological discovery, we want to highlight the importance of clinical evaluation as standardized neurological examination with HINE proved a valuable tool in prognostication.Plain Language SummaryOne in every 700–800 babies develop epilepsy within the first year after birth. Our study identified an epilepsy syndrome in 80% and the cause of epilepsy in 60% of the participants. By age 2 years, over one‐third of the children still experienced seizures, and almost half faced significant developmental delay. Structural brain abnormalities increased the likelihood of difficult epilepsy and developmental challenges. Babies whose epilepsy was caused by a gene defect varied widely in development and response to medications. Babies with normal neurological examination at first visit, especially if their seizures stopped quickly, had favorable development.

News (Medical) associated with PRRT2

26 Oct 2023

·www.prnewswire.com

A large international study of migraine reveals new biological pathways for treatment

REYKJAVIK, Iceland , Oct. 26, 2023 /PRNewswire/ -- A large international study led by deCODE Genetics on the genetics of migraine provides novel insights into the biology of migraine enabling detection of rare variants protecting against migraine, opening an avenue for potential development of novel drug targets. Continue Reading A large international study of migraine reveals new biological pathways for treatment. -Kári Stefanssonn CEO of deCode genetics talks to Gyda Bjornsdottir project leader. Credit: deCODE genetics Gyda Björnsdóttir project leader on behalf of deCODE genetics and Kári Stefánsson CEO of deCODE genetics (PRNewsfoto/deCODE genetics) In a study published today in Nature Genetics a group of international scientists led by deCODE Genetics in Iceland, a subsidiary of Amgen Inc, analyzed genetic data from over 1,3 million participants of which 80 thousand had migraine. The scientists focused on detecting sequence variants associated with the the two main subtypes of migraine: migraine with aura (often referred to as classical migraine) and migraine without aura. The results highlight several genes that affect one of these migraine subtypes over the other, and point to new biological pathways that could be targeted for therapeutic developments. Migraine is among the most common chronic pain disorders worldwide, with up to 20% of adults affected. Although recent advances have been made in studies of the genetics and underlying biology of migraine and new treatments recently developed that are effective for many migraine sufferers, they do not work for all types of migraine The study revealed associations with 44 variants, 12 of which are novel. Four novel migraine with aura associations were revealed and 13 variants associated primarily with migraine without aura. Of particular interest were three rare variants with large effects pointing to distinct pathologies underlying different types of migraine. Thus, a rare frameshift variant in the PRRT2 gene confers a large risk of migraine with aura and with another brain disease, epilepsy, but not of migraine without aura. In SCN11A, a gene known to play a key role in pain sensation, the scientists detected several rare loss-of-function variants associated with protection effects against migraine, while a common missense variant in the same gene associated with modest risk of migraine. Finally, a rare variant pointing to the KCNK5 gene, confers large protection against severe migraine and brain aneurysms, either identifying a common pathway between the two diseases, or suggesting that some cases of early brain aneurysm may be misclassified as migraine. „What makes our study unique is that it includes large datasets from sequenced individuals enabling detection of rare variants protecting against migraine, potentially opening an avenue for development of novel drug targets," says Kari Stefansson CEO of deCODE genetics.. The joint effort of the international research team was led by scientists at deCODE genetics in Iceland and included collaborating scientists from the Copenhagen Hospital Biobank and Danish Blood Bank Study, the HUSK study in Norway, the Intermountain Health study in the US, and data generated by the large population-based studies from the UK Biobank and FinnGen. Based in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE is a wholly-owned subsidiary of Amgen (NASDAQ:AMGN). Video - Photo - Logo - SOURCE deCODE genetics

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