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Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene

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Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment.

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References

  1. Dooling EC, Schoene WC, Richardson EP Jr (1974) Hallervorden-Spatz syndrome. Arch Neurol 30:70–83

    Article  CAS  PubMed  Google Scholar 

  2. Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 28:345–349

    Article  CAS  PubMed  Google Scholar 

  3. Swaiman KF (2001) Hallervorden-Spatz syndrome. Pediatr Neurol 25:102–108

    Article  CAS  PubMed  Google Scholar 

  4. Magarinos-Ascone CM, Regidor I, Martinez-Castrillo JC, Gomez-Galan M, Figueiras-Mendez R (2005) Pallidal stimulation relieves myoclonus-dystonia syndrome. J Neurol Neurosurg Psychiatry 76:989–991

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Mikati MA, Yehya A, Darwish H, Karam P, Comair Y (2009) Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 13:61–64

    Article  PubMed  Google Scholar 

  6. Sharma MC, Aggarwal N, Bihari M, Goyal V, Gaikwed S, Vaishya S, Sarkar C (2005) Hallervorden spatz disease: MR and pathological findings of a rare case. Neurol India 53:102–104

    Article  CAS  PubMed  Google Scholar 

  7. Umemura A, Jaggi JL, Dolinskas CA, Stern MB, Baltuch GH (2004) Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report. J Neurosurg 100:706–709

    Article  PubMed  Google Scholar 

  8. van Coller R, Slabbert P, Vaidyanathan J, Schutte C (2014) Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. Stereotact Funct Neurosurg 92:388–392

    Article  PubMed  Google Scholar 

  9. Hallervorden J, Spatz H (1922) Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra. Z Gesamte Neurol Psychiatr 79:254–302

    Article  Google Scholar 

  10. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 348:33–40

    Article  CAS  PubMed  Google Scholar 

  11. Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U (2013) Alterations of red cell membrane properties in neuroacanthocytosis. PLoS ONE 8, e76715

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  12. Cif L, Gonzalez V, Garcia-Ptacek S, Roujeau T, Gelisse P, Moura de Ribeiro AM, Crespel A, MacPherson L, Coubes P (2014) Atypical PLA2G6-associated neurodegeneration: social communication impairment, dystonia and response to deep brain stimulation. Mov Disord Clin Pract 1:128–131

    Article  Google Scholar 

  13. Fasano A, Ricciardi L, Bentivoglio AR, Canavese C, Zorzi G, Petrovic I, Kresojevic N, Kostic VS, Svetel M, Kovacs N, Balas I, Roubertie A, Mishra D, Mariotti P, Temudo T, Nardocci N (2012) Status dystonicus: predictors of outcome and progression patterns of underlying disease. Mov Disord 27:783–788

    Article  PubMed  Google Scholar 

  14. Grandas F, Fernandez-Carballal C, Guzman-de-Villoria J, Ampuero I (2011) Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation. Mov Disord 26:921–922

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements) or non-financial interest (such as personal or professional relationships, affiliations, knowledge, or beliefs) in the subject matter or materials discussed in this manuscript.

Conflicts of interest

None.

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The patient has consented to the submission of the case report to the journal.

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Authors and Affiliations

  1. Department of Neurosurgery, Marmara University Pendik Research and Training Hospital, Fevzi Çakmak Mah. Muhsin Yazıcıoğlu Cad. No: 10, Üst Kaynarca/Pendik, Istanbul, Turkey

    Bahattin Tanrıkulu

  2. Department of Neurosurgery, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey

    Ali Özen, Fatih Bayraklı, Yaşar Bayri, Adnan Dağçınar & Aşkın Şeker

  3. Department of Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basıbuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey

    Dilek Ince Günal

  4. Department of Pediatric Neurology, Marmara University Faculty of Medicine, Basıbuyuk Mah. Maltepe Basibuyuk Yolu Sok. No:9/1, Maltepe, Istanbul, Turkey

    Dilşad Türkdoğan

Authors
  1. Bahattin Tanrıkulu
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  2. Ali Özen
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  3. Dilek Ince Günal
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  4. Dilşad Türkdoğan
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  5. Fatih Bayraklı
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  6. Yaşar Bayri
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  7. Adnan Dağçınar
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  8. Aşkın Şeker
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Corresponding author

Correspondence to Aşkın Şeker.

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Comment

In this article, Tanrikulu et al. present their experience in the treatment of a 10-year-old boy with PANK2 in dystonic storm who was treated successfully with globus pallidus internus (GPi) deep brain stimulation (DBS). The clinical outcome was favorable, showing good improvement with reduced rigidity, dysarthria, and dysphagia. The authors suggest GPi DBS as an effective therapeutic alternative for medically intractable dystonic storm and generalized dystonia in patients with homozygous C.628 2T>G mutation.

This case report gives detailed information about the patients’ history as well as the surgical technique and clinical course. The favorable outcome is in line with previous case reports (1-3), but larger series presenting the clinical course following DBS treatment in patients with dystonic storm—especially the long-term results—have not been published so far.

The surgical therapy of using GPi DBS or pallidotomy in dystonia caused by PKAN disease is not new and has been reported by different authors over the past years with different results (4-7). Due to the heterogeneous clinical signs and different temporal onset of symptoms, prospective studies or larger series of patients suffering from this rare condition are missing.

However, in the presented case a particularly severe clinical course was reported with good results. In the future, besides molecular and gene-based therapeutic approaches, DBS might play an increasing role in the treatment of a larger group of patients with PKAN syndrome.

Joachim Oertel, Dörthe Keiner

Homburg/Saar,Germany

1. Grandas F, Fernandez-Carballal C, Guzman-de-Villoria J, Ampuero (2011) Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation. Mov Disord 26: 921-922

2. Aydin S, Abuzayed B, Uysal S, Unver O, Uzan M, Mengi M, Kizilkilic O, Hanci M (2013) Pallidal deep brain stimulation in a 5-year-old child with dystonic storm: case report. Turk Neurosurg 23: 125-128

3. Elkay M, Silver K, Penn RD, Dalvi A (2009) Dystonic storm due to Batten’s disease treated with pallidotomy and deep brain stimulation. Mov Disord 24: 1048-1053

4. Garcia-Ruiz PJ, Ayerbe J, Vela Desojo L, Feliz CE, Del Val Fernandez J (2015) Deep brain stimulation for pantothenate kinase-associated neurodegeneration. Case Rep Neurol Med 2015: doi: 10.1155/2015/245735

5. Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS, Kim YE, Yun JY, Jeon BS, Lim YH, Paek SH, Chae JH (2012) Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. Eur J Neurol 19:556-561

6. Mikati MAAddress="http://www.ncbi.nlm.nih.gov/pubmed/?term=Mikati%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=18462962"/>, Yehya ADarwish HKaram PComair Y (2009) Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 13: 61-64

7. Krause M, Fogel W, Tronnier V, Pohle S, Hörtnagel K, Thyen U, (2006) Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. 21: 2255-2257

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Tanrıkulu, B., Özen, A., Günal, D.I. et al. Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene. Acta Neurochir 157, 1513–1517 (2015). https://doi.org/10.1007/s00701-015-2514-5

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