The patient presented at four years of age with progressive lower extremity weakness and generalized hypotonia. [ncbi.nlm.nih.gov]

Some of the present authors previously reported aWDR45 mutation different from that of the present case in a patient showing clinically Rett syndrome [ 7 ]. [omicsonline.org]

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]

• Turkish

  Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient. [pediatricneurosciences.com]

  Hanagasi and Vincenzo Bonifati, The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN, Parkinsonism & Related Disorders, 39, (64), (2017). Angela Deutschländer, Takuya Konno and Owen A. [doi.org]

• Restless Legs Syndrome

  TCS is also presently considered an additional diagnostic tool for corticobasal degeneration (CBD), Wilson’s disease (WD), primary restless legs syndrome (RLS) [ 2, 3, 4 ] and multiple sclerosis (MS) progression [ 5 ]. [link.springer.com]

• Hyperreflexia

  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]

• Polyneuropathy

  Scherer, Stephan Züchner, Rudolf Martini and Jan Senderek, Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies, The American Journal of Human Genetics, 99, 3, (607), (2016). [doi.org]

  Sonographic substantia nigra hypoechogenicity in polyneuropathy and restless legs syndrome. Mov Disord. 2009;24:133–7. CrossRef PubMed Google Scholar 4. Walter U, Krolikowski K, Tarnacka B, Benecke R, Czlonkowska A, Dressler D. [link.springer.com]

• Babinski Sign

  sign Dysarthria Iron accumulation observed on brain MRI in both the globus pallidus and substantia nigra ( Figure 1B ). [ncbi.nlm.nih.gov]

• Alteration of Consciousness

  Persons with advanced disease may have stereotypic hand or head movements with alterations in consciousness that do not appear to be related to seizures. Death typically occurs secondary to complications such as aspiration pneumonia. [ncbi.nlm.nih.gov]

(See Presentation and Workup.) [4, 5, 6] PKAN is relentlessly progressive. The clinical course is characterized by progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis. [emedicine.medscape.com]

• Excessive Drooling

  Management of excessive secretions and aspiration risk with glycopyrrolate, transdermal scopolamine patch, and/or tracheostomy as indicated. [ncbi.nlm.nih.gov]

Treatment of manifestations: Pharmacologic treatment of spasticity, dystonia, and parkinsonism; psychiatric treatment of significant neuropsychiatric symptoms; physical, occupational, speech, and other therapies as indicated. [ncbi.nlm.nih.gov]

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]

Treatment may require the coordinated efforts of a team of specialists. [nbiaalliance.org]

Phenotypes of the different disorders appear to be dependent on age, i.e. amount of iron accumulation and cognitive abilities. [17] Treatments [ edit ] An effective treatment has yet to be found. [en.wikipedia.org]

Treatments may help improve symptoms, relieve pain, and increase mobility. [medlineplus.gov]

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

(See Presentation and Prognosis.) [7, 8] The disease can be familial or sporadic. [emedicine.medscape.com]

Etiology The exact etiology of PKAN is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. [emedicine.medscape.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;16:257–79. CrossRef PubMed Google Scholar 17. [link.springer.com]

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]

Overall, these data promote Drosophila as a useful model for studying PLA2G6-associated neurodegeneration, and for manipulating pathways and therapeutic targets in order to reverse or prevent the deleterious effects of lipid peroxides. [sdbonline.org]

However, vacuolar proteases rapidly degrade proteins taken up by autophagy and thus frequently prevent protein detection in the vacuole. [elifesciences.org]