Skip to main content
Log in

Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Jankovic J (2001) Tourette’s syndrome. N Engl J Med 345(16):1184–1192

    Article  CAS  PubMed  Google Scholar 

  2. Nardocci N, Rumi V, Combi ML, Angelini L, Mirabile D, Bruzzone MG (1994) Complex tics, stereotypies, and compulsive behavior as clinical presentation of a juvenile progressive dystonia suggestive of Hallervorden-Spatz disease. Mov Disord 9(3):369–371

    Article  CAS  PubMed  Google Scholar 

  3. Scarano V, Pellecchia MT, Filla A, Barone P (2002) Hallervorden-Spatz syndrome resembling a typical Tourette syndrome. Mov Disord 17(3):618–620

    Article  PubMed  Google Scholar 

  4. Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B (2005) The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology 64(10):1810–1812

    Article  CAS  PubMed  Google Scholar 

  5. Morales-Briceño H, Chacón-Camacho OF, Pérez-González EA, Arteaga-Vázquez J, Rodríguez-Violante M, Cervantes-Arriaga A, Pérez-Rodríguez L, Zenteno JC, Mutchinick OM (2015) Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration. Clin Genet 87(3):259–265

    Article  CAS  PubMed  Google Scholar 

  6. Molina da Costa RQ, Marrocos RP, Araujo Leite MA, Gobbi Porto FH (2016) All that glitters are not gold, when motor and vocal tics in a child do not match Tourette syndrome, a case report. Dement Neuropsychol 10(3):251–253

    Article  Google Scholar 

  7. Kurian MA, Hayflick SJ (2013) Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegenerations with brain iron accumulation (NBIA) phenotypes. Int Rev Neurobiol 110:49–71

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Ondo WG, Adam OR, Jankovic J, Chinnery PF (2010) Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. Mov Disord 25(14):2470–2472

    Article  PubMed  Google Scholar 

  9. Worbe Y, Marrakchi-Kacem L, Lecomte S, Valabregue R, Poupon F, Guevara P, Tucholka A, Mangin JF, Vidailhet M, Lehericy S, Hartmann A, Poupon C (2015) Altered structural connectivity of cortico-striato-pallido-thalamic networks in Gilles de la Tourette syndrome. Brain 138(Pt 2):472–482

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Contributions

Mohammad Rohani: executed the study and drafted the manuscript

Alfonso Fasano: revised the manuscript for intellectual content

Anthony E Lang: revised the manuscript for intellectual content

Babk Zamani: revised the manuscript for intellectual content

Leila Javanparast: did genetic testing

Mohammad Masoud Rahimi Bidgoli:did genetic testing

Afagh Alavi: did genetic testing and revised the manuscript for intellectual content

Corresponding author

Correspondence to Afagh Alavi.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Electronic supplementary materials

Supplementary Figure 1

Results of DUET prediction. The results show the folding free energy changes upon mutation. Minus values of the Gibbs free energy (ΔΔG) predict as destabilizing. Arrow shows position of Leu278. (PNG 1610 kb)

high resolution image (TIF 324 kb)

Supplementary Figure 2

Sequencing chromatogram of PANK2 mutation observed in the Iranian patient. Results of direct sequencing of PANK2 gene using forward (top) and reverse (down) primers. (PNG 2039 kb)

high resolution image (TIF 573 kb)

Supplementary table 1

(DOCX 13 kb)

Video 1

Multiple motor tics are evident especially when he is distracted by asking to do finger tapping. (MPG 14644 kb)

Video 2

On walking there is mild dystonic posture of feet and great toes more on the right side. (MPG 4312 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Rohani, M., Fasano, A., Lang, A.E. et al. Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature. Neurol Sci 39, 1797–1800 (2018). https://doi.org/10.1007/s10072-018-3472-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-018-3472-5

Navigation