Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

Hogarth, Penelope; Kurian, Manju A.; Gregory, Allison; Csányi, Barbara; Zagustin, Tamara; Kmieć, Tomasz; Wood, Patricia M.; Klucken, Angelika; Scalise, Natale; Sofia, Francesca; Klopstock, Thomas; Zorzi, Giovanna; Nardocci, Nardo; Hayflick, Susan J.

doi:10.1016/j.ymgme.2016.11.004

Cited by 82 publications

(95 citation statements)

References 54 publications

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“…Pantethine also improved histological and motor symptoms and reversed the mitochondrial damage in derived neurons from a Pank2 KO murine model fed with a ketogenic diet [ 61 ]. In addition to these two therapeutic methods and in agreement with the guideline of clinical approaches for PKAN patients, medication management is primarily symptomatic: drugs (baclofen, clonazepam or hexyphenidyl) and other specific approaches such as botulinum toxin or deep brain stimulation are used to improve focal dystonia [ 76 ].…”

Section: Nbia Errors Of Coenzyme a Biosynthesismentioning

confidence: 99%

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

et al. 2020

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The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. Nonetheless, many patients remain without a conclusive genetic diagnosis, which shows that there must be additional as yet undiscovered NBIA genes. In line with this, isolated cases of known monogenic disorders, and also, new genetic diseases, which present with abnormal brain iron phenotypes compatible with NBIA, have been described. Several pathways are involved in NBIA syndromes: iron and lipid metabolism, mitochondrial dynamics, and autophagy. However, many neurodegenerative conditions share features such as mitochondrial dysfunction and oxidative stress, given the bioenergetics requirements of neurons. This review aims to describe the existing link between the classical ten NBIA forms by examining their connection with mitochondrial impairment as well as oxidative stress and neuroinflammation.

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Section: Nbia Errors Of Coenzyme a Biosynthesismentioning

confidence: 99%

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

et al. 2020

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“…In cases, where medical treatment fails to control the dystonia, deep brain stimulation of GP interna is an option, particularly in the atypical form. 2 Although amantadine is mentioned as a treatment option by Hogarth et al in their consensus clinical management guideline for PKAN, 2 to our knowledge, no cases of such a response for this medication have been documented in the literature previously.…”

mentioning

confidence: 88%

“…1 Currently, treatment of PKAN is limited to often ineffective trials of medications directed at the primary symptoms; and in some patients, deep brain stimulation may be a consideration. 2 Given the limited treatment options and the fact that physicians may not consider amantadine as a regular therapeutic option, we would like to report our positive experience with this medication for gait dysfunction, postural instability, and freezing of gait in three young adult patients with the atypical form of PKAN.…”

mentioning

confidence: 99%

Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Al-Shorafat

Lang

2019

Can. J. Neurol. Sci.

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“…35 Many other disorders of metal transport and brain accumulation exist, but either does not present with movement disorders in early childhood (e.g., Wilson's disease) or are not readily treatable (pantothenate kinase deficiency and other disorders of neurodegeneration with brain iron accumulation). [36][37][38][39] Diagnosis of DYT1 and DYT28 requires genetic testing. Given their response to DBS (and also noting that DYT6 responds to DBS), it has been suggested that all patients with isolated dystonia undergo TOR1A, THAP1, and KMT2B genetic testing to properly guide therapeutic options and ensure appropriate and early referral for DBS.…”

Section: Steadily Progressive Disorders Without Clear Stepwise Regresmentioning

confidence: 99%

Treatable Movement Disorders of Infancy and Early Childhood

Aravamuthan

Pearson

2020

Semin Neurol

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Movement disorders in childhood can be difficult to diagnose early. Disease processes present variably and can mimic each other. It is particularly important to remain vigilant for the subset of these movement disorders that are treatable. These disorders can be managed with (1) treatments specific to the disease that substantially reduce symptoms; (2) treatments that can prevent progression; (3) treatments that can hasten recovery; or (4) surveillance and management of the associated, sometimes life-threatening, comorbidities. Here, we present a practical and phenomenology-oriented framework for diagnosing and managing these treatable movement disorders of infancy and early childhood.

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Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

Cited by 82 publications

References 54 publications

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Treatable Movement Disorders of Infancy and Early Childhood

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