Ask about this productRelated genes to: PNMA2 Blocking Peptide
- Gene:
- PNMA2 NIH gene
- Name:
- PNMA family member 2
- Previous symbol:
- -
- Synonyms:
- MA2, RGAG2
- Chromosome:
- 8p21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-09-17
- Date modifiied:
- 2017-09-15
Related products to: PNMA2 Blocking Peptide
Related articles to: PNMA2 Blocking Peptide
- Paraneoplastic neurological syndromes (PNS) associated with triple-negative breast carcinoma (TNBC) are exceptionally rare. We report a case of fulminant encephalitis in a middle-aged woman with TNBC presenting with concurrent PNMA2 (Ma2/Ta), ZIC4 and recoverin antibody positivity. The patient initially developed a subacute cerebellar syndrome characterised by downbeat nystagmus, gait ataxia and diplopia. Comprehensive evaluation revealed FDG-avid left axillary lymphadenopathy and biopsy confirmed high-grade TNBC with PD-L1 CPS of 77. She received neoadjuvant chemo-immunotherapy as per standard institutional protocol (paclitaxel, carboplatin, epirubicin, cyclophosphamide and pembrolizumab). Following the sixth cycle, she developed refractory focal seizures progressing to status epilepticus with MRI findings consistent with cortical encephalitis. Despite aggressive immunosuppression including corticosteroids, intravenous immunoglobulin and rituximab, her condition proved refractory. She ultimately succumbed despite maximal supportive care. This case illustrates a rare paraneoplastic overlap syndrome combining PNMA2-associated encephalitis and ZIC4-associated cerebellar degeneration in TNBC, highlights diagnostic challenges when immune checkpoint inhibitors may amplify pre-existing onconeural immunity and underscores the dismal prognosis of intracellular antibody-mediated neurological syndromes despite aggressive immunotherapy. - Source: PubMed
Publication date: 2026/07/13
Gautam Roy PrabhatJagtap Aniket BGogia Ajay - Ma/Ma2-associated neurologic autoimmunity is characterized by CNS involvement. However, isolated peripheral nervous system (PNS) presentations have been rarely reported. We aimed to describe the frequency and syndromes of patients with Ma/Ma2 antibodies and isolated PNS involvement. - Source: PubMed
Publication date: 2026/06/23
Vilaseca AndreuVillagrán-García MacarenaFarina AntonioBruna JordiDalmau Josep ODubey DivyanshuHonnorat JeromeGraus Francesc - The interplay between crystal symmetry and strain provides a powerful, yet underexplored, route for tailoring the optoelectronic properties of lead-free KSnI perovskites. In the present work, a comprehensive structure-property-strain framework is established through systematic first-principles analysis, revealing how symmetry and mechanical deformation govern the electronic structure and optical response across multiple polymorphs. Only the orthorhombic ( and ) and monoclinic ( /) phases are found to be dynamically, thermally, and mechanically stable, whereas the tetragonal ( and ) phases exhibit lattice instabilities. Electronically, and / exhibit indirect semiconducting behavior, while , , and possess direct band gaps, enabling a symmetry-driven optoelectronic functionality. All stable phases exhibit strong polarization-dependent visible-UV absorption with extending into the infrared, yielding a broadband optical response. Notably, the / phase is distinguished by a y-polarized absorption coefficient of 1.06 × 10 cm at 1.88 eV and a reflectivity of up to 82%, highlighting its potential for high-performance optical coating applications. Going beyond static properties, biaxial and triaxial strain emerge as efficient routes for tuning the band gap and optical response of KSnI phases over a wide energy range. Overall, our findings demonstrate KSnI as a highly tunable lead-free perovskite platform where symmetry and strain serve as key design parameters for optoelectronic applications. - Source: PubMed
Publication date: 2026/05/02
Ayvalik AynurDogan Kadir CanCetin ZebihYagmurcukardes MehmetOrucu Humeyra - Paraneoplastic limbic encephalitis (PLE) with anti-Ma2 antibodies is a rare immune-mediated disorder associated with testicular cancer, particularly in young males. While neurological manifestations are well documented, hypothalamic-pituitary dysfunctions remain underreported. We present a case of anti-Ma2 PLE associated with testicular cancer together with a systematic review of PLE associated with testicular cancer, selectively restricted to anti-Ma2 positive cases and focusing on hypothalamic-endocrine involvement. We describe a 21-year-old male diagnosed with anti-Ma2 PLE and intratubular germ cell neoplasia of the right testis. He underwent orchifunicolectomy and immunosuppressive therapy with neurological improvement. Four years later, he developed new-onset temporal seizures, decreased libido, and a polyuria-polydipsia syndrome. Dynamic endocrine testing, including a water deprivation test and copeptin measurement, supported a diagnosis of partial central diabetes insipidus (CDI). A systematic literature review was performed in accordance with PRISMA guidelines. PubMed was searched using predefined keywords without time restriction. Studies reporting PLE associated with testicular tumors in humans with confirmed anti-Ma2 antibody positivity were included. Eleven studies were included, reporting a total of 38 patients with anti-Ma2-associated PLE and testicular cancer. Hypothalamic or diencephalic involvement was described in 16 patients (42.0%), while endocrine manifestations were explicitly reported in four cases. Only two previous reports mentioned CDI, without detailed diagnostic evaluation. This study highlights the importance of recognizing hypothalamic-endocrine manifestations in PLE. In patients presenting with polydipsia and polyuria, CDI should be carefully differentiated from primary polydipsia using dynamic testing. Hypothalamic involvement may emerge years after tumor treatment, warranting long-term endocrine surveillance. - Source: PubMed
Publication date: 2026/03/31
Zamponi VirginiaParavani PieroMazzilli RossellaRusso FlaminiaGardiman Marina PaolaGiometto BrunoIorio RaffaelePeri AlessandroZoccarato MarcoFaggiano Antongiulio - BACKGROUND Secondary narcolepsy type 1 (NT1) is an uncommon but increasingly recognized disorder, often associated with autoimmune etiologies that disrupt hypothalamic hypocretin/orexin-producing neurons. Anti-Ma2 encephalitis, a paraneoplastic syndrome commonly linked to testicular tumors, typically involves the limbic system and diencephalon, leading to diverse neuropsychiatric manifestations. While hypersomnia has been reported in a subset of these patients, full syndromic NT1 - characterized by cataplexy, hypocretin deficiency, and objective sleep study abnormalities - remains underrecognized as a presentation. This gap in awareness can delay diagnosis, particularly when sleep-related symptoms predominate. Identifying autoimmune triggers in cases of rapidly progressive hypersomnia is thus critical for guiding appropriate treatment. CASE REPORT A 60-year-old man developed subacute severe daytime sleepiness, cataplexy, episodic limb weakness, and cognitive decline. Polysomnography indicated mild sleep-disordered breathing. The MSLT revealed a mean sleep latency of 6.2 min with 3 SOREMPs. CSF hypocretin-1 was markedly low (22.836 pg/mL). Anti-Ma2 antibodies were positive in both serum and CSF. Neuroimaging showed periventricular white matter changes on MRI and medial temporal hypermetabolism on PET-CT. Immunotherapy with corticosteroids and IVIG resulted in partial neurological improvement and significant reduction in sleepiness. CONCLUSIONS Anti-Ma2 encephalitis is a treatable cause of secondary NT1. Immunotherapy can substantially improve hypersomnolence, although adjunctive symptomatic treatment may be necessary for residual symptoms. Autoimmune evaluation - including antibody panels and hypocretin testing - is crucial in cases of acute/subacute hypersomnia with atypical features to enable timely diagnosis and treatment. - Source: PubMed
Publication date: 2026/03/28
Wang MengZhang NingBian ZhijieLi YaoWang Shuhui