BibTex RIS Cite

Deep Brain Stimulation In Dystonia Secondary To Pantothenate Kinase-Associated Neurodegeneration Pkan

Year 2012, Issue: 1, 72 - 75, 01.03.2012

Uğur Işık Yasemin Akgün Selçuk Peker Memet Özek

Abstract

Pantothenate kinase-associated neurodegeneration PKAN is a rare autosomal recessive disorder with childhood onset and rapid progression. There is no effective medical therapy for this disorder. Stereotactic surgery consisting of thalomotomy and pallidotomy has been performed for medically refractory severe dystonia. Recently, deep brain stimulation DBS of globus pallidus GP has emerged as an alternative treatment in intractable dystonia. Three patients with PKAN-related dystonia, two of which demonstrated good response to bilateral globus pallidus internus GPi DBS are reported here

Keywords

Deep brain stimulation dystonia PKAN

References

  • Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol 2005;43:286-96
  • Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden- Spatz syndrome. Nat Genet 2001; 28:345-9
  • Iacono RP, Kuniyoshi SM, Lonser RR, Maeda G, Inae AM, Ashwal S. Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. Pediatr Neurol 1996; 14:145-8.
  • Justesen CR, Penn RD, Kroin JS, Egel RT. Sterotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report. J Neurosurg 1999;90:551-4
  • Lozano AM, Kumar R, Gross RE, Giladi N, Hutchison WD, Dostrovsky JO ve ark. Globus pallidus internus pallidotomy for generalized dystonia. Mov Disord 1997; 12:865-70
  • Ondo WG, Desaloms JM, Jankovic J, Grossman RG. Pallidotomy for generalized dystonia. Mov Disord 1998; 13:693-8
  • Tsukamoto H, Inui K, Taniike M, Nishimoto J, Midorikawa M, Yoshimine T ve ark . A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy. Brain Dev1992;14:269-72
  • Krause M, Fogel W, Kloss M, Rasche D, Volkmann J, Tronnier V. Pallidal stimulation for dystonia. Neurosurgery 2004; 55:1361-8
  • Umemura A, Jaggi JL, Dolinskas CA, Stern MB, Baltuch GH. Pallidal deep brain stimulation for longstanding severe genralized dystonia in Hallervorden-Spatz syndrome. J Neurosurg 2004;100:706-9
  • Vercueil L, Pollak P, Fraix V, Caputo E, Moro E, Benazzouz A ve ark. Deep brain stimulation in the treatment of severe dystonia. J Neurol 2001;248:695-700.
  • Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:166-9.
  • Savoiardo M, Halliday WC, Nardocci N, Strada L, D’Incerti L, Angelini L ve ark. Hallervorden-Spatz disease: MR and pathologic findings. AJNR Am J Neuroradiol 1993;14:155-62
  • Gil-Robles S, Cif L, Biolsi B, Tancu C, El Fertit H, Coubes P. Neurosurgical treatment in childhood dystonias and dyskinesias. Rev Neurol 2006;43 Suppl1:S169-72.
  • Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A ve ark. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005;57:738-41.
  • Krause M, Fogel W, Tronnier V, Pohle S, Hortnagel K, Thyen U ve ark. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. Mov Disord 2006;21:2255-7
  • Mikati MA, Yehya A, Darwish H, Karam P, Comair Y. Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 2009; 13:61-4.
  • Gregory A, Hayflick SJ. Pantothenate-kinase associated neurodegeneration. In: GeneReviews [Internet] Pagon RA, Bird TC, Dolan CR and Stephens K Eds. Seattle (WA): University of Washington, Seattle, 1993-2002.
  • Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS ve ark. Pantothenate kinase-associated neurodegeneration in Korea:recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. Europ J Neurol 2011;doi:10.1111/j.1468-1331.2011.03589.x.

Pantotenat Kinaz ile İlgili Nörodejenerasyon PKAN ‘a Bağlı Distonide Derin Beyin Stimülasyonu

Year 2012, Issue: 1, 72 - 75, 01.03.2012

Uğur Işık Yasemin Akgün Selçuk Peker Memet Özek

Abstract

Pantotenat kinaz ile ilgili nörodejenerasyon PKAN çocukluk çağında başlayan ve hızla ilerleyen, nadir görülen, otozomal resesif bir hastalıktır. Etkili bir medikal tedavisi bulunmayıp, distoni için talamotomi ve pallidotomi gibi sterotaktik cerrahi yöntemler uygulanmaktadır. Globus pallidusa GP derin beyin stimülasyonu DBS uygulanması dirençli distonide son yıllarda uygulanan alternatif bir yöntemdir. Burada PKAN’a sekonder distonisi olan ve ikisinin derin beyin stimülasyonuna çok iyi yanıt verdiği toplam üç hasta sunulmaktadır

Keywords

Derin beyin stimülasyonu distoni PKAN

References

  • Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol 2005;43:286-96
  • Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden- Spatz syndrome. Nat Genet 2001; 28:345-9
  • Iacono RP, Kuniyoshi SM, Lonser RR, Maeda G, Inae AM, Ashwal S. Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans. Pediatr Neurol 1996; 14:145-8.
  • Justesen CR, Penn RD, Kroin JS, Egel RT. Sterotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report. J Neurosurg 1999;90:551-4
  • Lozano AM, Kumar R, Gross RE, Giladi N, Hutchison WD, Dostrovsky JO ve ark. Globus pallidus internus pallidotomy for generalized dystonia. Mov Disord 1997; 12:865-70
  • Ondo WG, Desaloms JM, Jankovic J, Grossman RG. Pallidotomy for generalized dystonia. Mov Disord 1998; 13:693-8
  • Tsukamoto H, Inui K, Taniike M, Nishimoto J, Midorikawa M, Yoshimine T ve ark . A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy. Brain Dev1992;14:269-72
  • Krause M, Fogel W, Kloss M, Rasche D, Volkmann J, Tronnier V. Pallidal stimulation for dystonia. Neurosurgery 2004; 55:1361-8
  • Umemura A, Jaggi JL, Dolinskas CA, Stern MB, Baltuch GH. Pallidal deep brain stimulation for longstanding severe genralized dystonia in Hallervorden-Spatz syndrome. J Neurosurg 2004;100:706-9
  • Vercueil L, Pollak P, Fraix V, Caputo E, Moro E, Benazzouz A ve ark. Deep brain stimulation in the treatment of severe dystonia. J Neurol 2001;248:695-700.
  • Hayflick SJ, Penzien JM, Michl W, Sharif UM, Rosman NP, Wheeler PG. Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome. Pediatr Neurol 2001;25:166-9.
  • Savoiardo M, Halliday WC, Nardocci N, Strada L, D’Incerti L, Angelini L ve ark. Hallervorden-Spatz disease: MR and pathologic findings. AJNR Am J Neuroradiol 1993;14:155-62
  • Gil-Robles S, Cif L, Biolsi B, Tancu C, El Fertit H, Coubes P. Neurosurgical treatment in childhood dystonias and dyskinesias. Rev Neurol 2006;43 Suppl1:S169-72.
  • Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A ve ark. Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann Neurol 2005;57:738-41.
  • Krause M, Fogel W, Tronnier V, Pohle S, Hortnagel K, Thyen U ve ark. Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration. Mov Disord 2006;21:2255-7
  • Mikati MA, Yehya A, Darwish H, Karam P, Comair Y. Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration. Eur J Paediatr Neurol 2009; 13:61-4.
  • Gregory A, Hayflick SJ. Pantothenate-kinase associated neurodegeneration. In: GeneReviews [Internet] Pagon RA, Bird TC, Dolan CR and Stephens K Eds. Seattle (WA): University of Washington, Seattle, 1993-2002.
  • Lim BC, Ki CS, Cho A, Hwang H, Kim KJ, Hwang YS ve ark. Pantothenate kinase-associated neurodegeneration in Korea:recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. Europ J Neurol 2011;doi:10.1111/j.1468-1331.2011.03589.x.
There are 18 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

Uğur Işık

Yasemin Akgün

Selçuk Peker

Memet Özek

Publication Date March 1, 2012
Published in Issue Year 2012Issue: 1

Cite

EndNote Işık U, Akgün Y, Peker S, Özek M (March 1, 2012) Pantotenat Kinaz ile İlgili Nörodejenerasyon PKAN ‘a Bağlı Distonide Derin Beyin Stimülasyonu. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 1 72–75.