Pantothenate kinase‐associated neurodegeneration in Korea: recurrent R440P mutation in <i>PANK2</i> and outcome of deep brain stimulation

Lim, Byung Chan; Ki, Chang‐Seok; Cho, Anna; Kim, KiJoong; Hwang, Yong Seung; Kim, Y. E.; Yun, Ji Young; Jeon, Beomseok; Lim, Yong Beom; Paek, Sun Ha; Chae, Jong Hee

doi:10.1111/j.1468-1331.2011.03589.x

Cited by 39 publications

(26 citation statements)

References 18 publications

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“…Several other case reports also suggested that GPi-DBS could offer a therapeutic alternative for dystonia due to various focal brain lesions and inherited metabolic or genetic disorders. There is evidence to suggest that GPi-DBS may be effective in patients with PANK2 mutations (average motor improvement of 30%, although with marked variability) 129 135 134 137. Anecdotal reports also indicate that GPi-DBS could be useful in patients with dystonia secondary to GM1 gangliosidosis,150 mitochondrial disorder with striatal necrosis,151 Lesch–Nyhan disease138 145 144 152 and X-linked parkinsonism 153.…”

Section: Literature Analysis According To the Expected Outcomementioning

confidence: 99%

Deep brain stimulation for dystonia

Vidailhet

Jutras

Grabli

et al. 2012

Journal of Neurology, Neurosurgery & Psychiatry

151

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The few controlled studies that have been carried out have shown that bilateral internal globus pallidum stimulation is a safe and long-term effective treatment for hyperkinetic disorders. However, most recent published data on deep brain stimulation (DBS) for dystonia, applied to different targets and patients, are still mainly from uncontrolled case reports (especially for secondary dystonia). This precludes clear determination of the efficacy of this procedure and the choice of the 'good' target for the 'good' patient. We performed a literature analysis on DBS for dystonia according to the expected outcome. We separated those with good evidence of favourable outcome from those with less predictable outcome. In the former group, we review the main results for primary dystonia (generalised/focal) and highlight recent data on myoclonus-dystonia and tardive dystonia (as they share, with primary dystonia, a marked beneficial effect from pallidal stimulation with good risk/ benefit ratio). In the latter group, poor or variable results have been obtained for secondary dystonia (with a focus on heredodegenerative and metabolic disorders). From this overview, the main results and limits for each subgroup of patients that may help in the selection of dystonic patients who will benefit from DBS are discussed.

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Section: Literature Analysis According To the Expected Outcomementioning

confidence: 99%

Deep brain stimulation for dystonia

Vidailhet

Jutras

Grabli

et al. 2012

Journal of Neurology, Neurosurgery & Psychiatry

151

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“…This has prompted neurosurgical treatment attempts, such as stereotactic brain lesions [4,5], and, more recently, deep brain stimulation (DBS) surgery of the internal globus pallidus (GPi) [6-8] following reported success in the management of other hyperkinetic movement disorders [9-12]. However, only single case or small series have been reported heterogeneously and in the short term, which likely bias the results towards favourable outcomes.…”

Section: Introductionmentioning

confidence: 99%

Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis

et al. 2013

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BackgroundChorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS.MethodsData were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months).ResultsMotor severity, assessed by the Unified Huntington’s Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery.ConclusionThis study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.

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“…The disease usually continues for 10-12 years, but some reports describe patients who survived for 30 years 12,14,15 .…”

Section: Discussionmentioning

confidence: 99%

“…In this case, the toxin was performed bilaterally in the gastrocnemius and soleus muscles in an attempt to reduce the dystonia in lower limbs. The bilateral pallidal deep brain stimulation also has been studied in treatment of patients with PKAN, with outcome favorable in the management of dystonia 15,17 .…”

Section: Discussionmentioning

confidence: 99%

Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

Fuentefria

Fiório

Dias³

2014

RNC

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Rev Neurocienc 2013;21(4):574-579 relato de caso 574 RESUMOIntrodução. Neurodegeneração com acúmulo cerebral de ferro (NBIA) envolve um grupo de desordens extrapiramidais progressivas caracterizadas pelo acúmulo de ferro no cérebro. Objetivo. Descrever a função motora grossa de uma criança com 7 anos de idade, com diagnóstico clínico de NBIA. Método. Trata-se de um relato de caso envolvendo uma criança do sexo feminino, com 7 anos de idade e diagnóstico clínico de NBIA. Foi coletada a história da doença e realizado exame neuromotor utilizando uma ficha de avaliação fisioterapêutica. O GMFM -Medição da Função Motora Grossa, um sistema de avaliação quantitativa da função motora grossa em cinco dimensões, foi aplicado. Apresentação do Caso. Ressonância Magnética (RM) mostrou o sinal do olho-de-tigre no globo pálido medial. O exame clínico apresentou sinais extrapiramidais como distonia, coreoatetose, disartria e deficiência visual. Neste caso, a combinação de achados clínicos e da RM foi consistente com NBIA. Resultados. Na dimensão A (deitar e rolar) do GMFM, a criança alcançou um escore de 39 pontos (76% da função motora grossa); na dimensão B (sentar) ela alcançou um escore total de 60 pontos (30% da função), na dimensão C (engatinhar e ajoelhar) ela alcançou um escore de 1 ponto (2% da função), na dimensão D (em pé) e na dimensão E (andar, correr e pular) ela não pontuou em nenhum item. Conclusão. O déficit significativo na estabilidade proximal e os espasmos distônicos extensores frequentes afetaram o desempenho funcional da criança. Unitermos. Neurodegeneração Associada a Pantotenato ABSTRACTIntroduction. Neurodegeneration with brain iron accumulation (NBIA) involves a group of progressive extrapyramidal disorders characterised by iron accumulation in the brain. Objective. to describe the gross motor function of a child with clinical diagnosis of NBIA. Method. This is a case report involving a 7-year-old child and clinical diagnosis of NBIA. This study evaluated the history of the disease and the neuromotor functions of the child using a neurological physiotherapy evaluation form. The GMFM -Gross Motor Function Measure, a system of quantitative assessment of gross motor function in five broad dimensions, was applied. Case Presentation. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. Clinical examination presented extrapyramidal signs like dystonia, choreoathetosis, dysarthria and visual impairment. In this case, the combination of clinical and MRI findings was consistent with NBIA. Results. In the A dimension (down and roll) of GMFM, the child achieve a score of 39 points (76% of the gross motor function); in the B dimension (sit) she achieve a total score of 60 points (30% of the function); in the C dimension (crawl and kneel) she achieve a score of 1 point (2% of the function); in the D dimension (standing position) and in the E dimension (walk, run and jump) she did not score in any item. Conclusion. The significant deficit in proximal stability and fre...

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Pantothenate kinase‐associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation

Abstract: The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with PKAN. Furthermore, this study provides additional data for the recent international effort to evaluate the efficacy of pallidal DBS in the treatment of patients with PKAN.

Cited by 39 publications

References 18 publications

Deep brain stimulation for dystonia

Deep brain stimulation for dystonia

Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis

Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

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