Long-lasting isolated freezing of gait with good response to methylphenidate: A patient with pantothenate kinase-associated neurodegeneration

Kwon, Kyum‐Yil; Lee, Hye Mi; Kim, Minjik; Kang, Sung Hoon; Koh, Seong Beom

doi:10.1016/j.parkreldis.2015.04.003

Cited by 3 publications

(5 citation statements)

References 5 publications

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“…5 The latter compatible with the usual absence of striatal dopaminergic deficiency in PKAN cases. 7 The striking improvement in gait freezing with amantadine in one of our patients, to the best of our knowledge, has not been reported previously. Methylphenidate and trihexyphenidyl have been reported to reduce freezing in PKAN in two separate reports.…”

supporting

confidence: 43%

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Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Al-Shorafat

Lang

2019

Can. J. Neurol. Sci.

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supporting

confidence: 43%

“…Methylphenidate and trihexyphenidyl have been reported to reduce freezing in PKAN in two separate reports. 7,8 Interestingly, all three of our patients were taking trihexyphenidyl for dystonia, but none had noted an improvement in gait dysfunction or a reduction in falling rate as experienced after starting amantadine.…”

mentioning

confidence: 80%

Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Al-Shorafat

Lang

2019

Can. J. Neurol. Sci.

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“…There were no overt responses to conventional drugs used for the control of dystonia, tremor, or parkinsonism, although partial improvements were reported. In two patients with FOG as the main clinical feature, FOG showed dramatic responses to medications [ 7 , 17 ]. One patient (P9) dramatically improved with trihexyphenidyl, and the other patient (P15) dramatically improved with methylphenidate.…”

Section: Resultsmentioning

confidence: 99%

“…The preservation of nigrostriatal dopaminergic integrity can be associated with limited benefits of dopaminergic drugs. Isolated FOG with drug responsiveness is the most striking presenting feature in our series, although the exact mechanism remains uncertain [ 7 , 17 ]. GPi-DBS performed in three patients was shown to be partially effective for relieving dystonic symptoms.…”

Section: Discussionmentioning

confidence: 99%

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

Lee¹,

Park

Ryu

et al. 2016

JMD

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ObjectiveNeurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.MethodsWe collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).ResultsFour subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.ConclusionsWe found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

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“…A case report of isolated FOG in PKAN (pantothenate kinase-associated neurodegeneration) revealed dramatic responsiveness with an increased dosage of methylphenidate. [115] These findings suggest that the association between methylphenidate and FOG merits further exploration.…”

Section: Adrenergic Optionsmentioning

confidence: 99%

Current Nondopaminergic Therapeutic Options for Motor Symptoms of Parkinson's Disease

Chen

2017

Chinese Medical Journal

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Objective:The aim of this study was to summarize recent studies on nondopaminergic options for the treatment of motor symptoms in Parkinson's disease (PD).Data Sources:Papers in English published in PubMed, Cochrane, and Ovid Nursing databases between January 1988 and November 2016 were searched using the following keywords: PD, nondopaminergic therapy, adenosine, glutamatergic, adrenergic, serotoninergic, histaminic, and iron chelator. We also reviewed the ongoing clinical trials in the website of clinicaltrials.gov.Study Selection:Articles related to the nondopaminergic treatment of motor symptoms in PD were selected for this review.Results:PD is conventionally treated with dopamine replacement strategies, which are effective in the early stages of PD. Long-term use of levodopa could result in motor complications. Recent studies revealed that nondopaminergic systems such as adenosine, glutamatergic, adrenergic, serotoninergic, histaminic, and iron chelator pathways could include potential therapeutic targets for motor symptoms, including motor fluctuations, levodopa-induced dyskinesia, and gait disorders. Some nondopaminergic drugs, such as istradefylline and amantadine, are currently used clinically, while most such drugs are in preclinical testing stages. Transitioning of these agents into clinically beneficial strategies requires reliable evaluation since several agents have failed to show consistent results despite positive findings at the preclinical level.Conclusions:Targeting nondopaminergic transmission could improve some motor symptoms in PD, especially the discomfort of dyskinesia. Although nondopaminergic treatments show great potential in PD treatment as an adjunct therapy to levodopa, further investigation is required to ensure their success.

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Long-lasting isolated freezing of gait with good response to methylphenidate: A patient with pantothenate kinase-associated neurodegeneration

Cited by 3 publications

References 5 publications

Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Amantadine for Gait Dysfunction in Pantothenate Kinase-Associated Neurodegeneration

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

Current Nondopaminergic Therapeutic Options for Motor Symptoms of Parkinson's Disease

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