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Mitochondrial Membrane Protein-Associated Neurodegeneration



  • The patient presented at four years of age with progressive lower extremity weakness and generalized hypotonia.[ncbi.nlm.nih.gov]
  • Young onset dementias present significant diagnostic challenges. We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism.[ncbi.nlm.nih.gov]
  • Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported.[ncbi.nlm.nih.gov]
  • Table 1 presents the patients’ demographic and clinical data. The mean age of onset was 8.5 years (range 3–15 years) and the time between first symptoms and the present study was 13 years (range 8–23 years).[link.springer.com]
  • Together with these findings, the results of the present studysuggest that TCS might support the discrimination betweendifferent genetic subtypes of NBIA.[docslide.net]
Weight Loss
  • Weight loss and bowel and/or bladder dysfunction are common.EtiologyMPAN is caused by mutations in the chromosome 19 open reading frame 12 gene ( C19orf12; 19q13.11).[malacards.org]
  • Premature death may occur due to secondary complications such as aspiration pneumonia.Visit the Orphanet disease page for more resources.[malacards.org]
  • Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.[genecards.org]
  • This is followed by the development of spastic quadriparesis and hyperreflexia and ultimately areflexia and a vegetative state by the end of the first decade.[annalsofian.org]
  • Children with PKAN typically manifest gait problems around age 3 and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs.[nbiaalliance.org]
  • Involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor toe signs, was common (13 of 52 patients [25 percent]), as was cognitive decline (15 of 52 patients [29 percent]).[nejm.org]
  • We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism.[ncbi.nlm.nih.gov]
  • We present the case of a 35-year-old Kuwaiti man with social withdrawal, drowsiness, irritability, anxiety, aphasia, memory loss, hypereflexia, and Parkinsonism.[ncbi.nlm.nih.gov]
Motor Symptoms
  • Joseph Jankovic, Ask the Experts: Differentiating Parkinson’s disease from other parkinsonian disorders, Parkinson’s Disease: Diagnosis, Motor Symptoms and Non-Motor Features, 10.2217/ebo.13.228, (136-140), (2013).[doi.org]


  • Neuropsychiatric symptoms may require treatment by a psychiatrist. Medical providers also may seek to manage the disease by performing regular eye exams, as well as neurological tests for dystonia, spasticity and parkinsonism.[nbiadisorders.org]
  • The risk of having an affected child in further pregnancies is of 25%.Management and treatmentThere is currently no curative treatment. Management strategies focus on the medical and surgical palliation of symptoms.[malacards.org]
  • Symptomatic treatment for spasticity with baclofen and physiotherapy were initiated in our patients. NBIA refers to an inherited heterogeneous group of disorders.[pediatricneurosciences.com]
  • : Dopamine agonists Levodopa Deep brain stimulation Symptomatic treatment for dystonia and seizures A 33-year-old woman with a history of global developmental delay and generalized seizures in childhood presented at the age of 21 with parkinsonian symptoms[ajnr.org]
  • Marco Nuñez and Pedro Chana-Cuevas, New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases, Pharmaceuticals, 10.3390/ph11040109, 11, 4, (109), (2018). Vykuntaraju K. Gowda, Arundhati Patil, Varunvenkat M.[doi.org]


  • Diagnosis - Pantothenate Kinase-associated neurodegeneration Prognosis - Pantothenate Kinase-associated neurodegeneration Treatment - Pantothenate Kinase-associated neurodegeneration Resources - Pantothenate Kinase-associated neurodegeneration[checkorphan.org]


  • Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet. 2015;16:257–79. CrossRef PubMed Google Scholar 17.[link.springer.com]
  • Genetics and pathophysiology of neurodegeneration with brain iron accumulation. Curr Neuropharmacol 2013 ; 11 : 59 –79. 6. S. A. Schneider, K. P. Bhatia.[cambridge.org]
  • "Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)". primary. Current Neuropharmacology. 11 (1): 59–79. doi : 10.2174/157015913804999469. PMC 3580793. PMID 23814539.[en.wikipedia.org]
  • Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. Annu Rev Genomics Hum Genet. 2015 May 8. Abstract Berti CC, Dallabona, C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P.[tircon.eu]


  • Symptoms - Pantothenate Kinase-associated neurodegeneration Causes - Pantothenate Kinase-associated neurodegeneration Prevention - Pantothenate Kinase-associated neurodegeneration Not supplied.[checkorphan.org]
  • Inhibiting Drp1-mediated mitochondrial fission selectively prevents the release of cytochrome c during apoptosis. Cell Death Differ. 14 , 1086 -1094. Frezza, C., Cipolat, S., Martins de Brito, O., Micaroni, M., Beznoussenko, G.[jcs.biologists.org]
  • , Hamada J, Jeong SY, Fox R, Woltjer RL, Tepper PG, Lahaye LL, Rizzetto E, Harrs CH, de Boer T, van der Zwaag M, Jenko B, Čusak A, Pahor J, Kosec G, Grzeschik NA, Hayflick SJ, Tiranti V, Sibon OCM, Acetyl-4'-phosphopantetheine is stable in serum and prevents[tircon.eu]
  • With better understanding of the metabolic perturbations in pantothenate kinase–associated neurodegeneration, we may be able to devise neuroprotective interventions to prevent exacerbations and thereby slow the progression of the disease.[nejm.org]

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