Ataxia telangiectasia like disorder: Another dopa-responsive disorder look-alike?

Parkinsonism Relat Disord. 2020 May:74:22-24. doi: 10.1016/j.parkreldis.2020.03.016. Epub 2020 Apr 3.

Authors

Merve Hazal Ser¹, Şeyma Tekgül², Ayşegül Gündüz³, Meral E Kızıltan¹, Güneş Kızıltan¹, A Nazlı Başak²

Affiliations

¹ Istanbul University-Cerrahpasa, Cerrahpasa School of Medicine, Department of Neurology, Turkey.
² Koç University, School of Medicine, Molecular Biology and Genetics- KUTTAM, Suna and Inan Kıraç Foundation Neurodegeneration Research Laboratory, Turkey.
³ Istanbul University-Cerrahpasa, Cerrahpasa School of Medicine, Department of Neurology, Turkey. Electronic address: draysegulgunduz@yahoo.com.

PMID: 32289520
DOI: 10.1016/j.parkreldis.2020.03.016

No abstract available

Keywords: Ataxia-telangiectasia-like disorder (ATLD); Dystonia; Hyperekplexia; Levodopa-responsive.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Ataxia Telangiectasia* / diagnosis
Ataxia Telangiectasia* / drug therapy
Ataxia Telangiectasia* / genetics
Ataxia Telangiectasia* / physiopathology
Dopamine Agents / administration & dosage
Dystonic Disorders* / diagnosis
Dystonic Disorders* / drug therapy
Dystonic Disorders* / genetics
Dystonic Disorders* / physiopathology
Female
Humans
Levodopa / administration & dosage
Pedigree

Substances

Dopamine Agents
Levodopa

Supplementary concepts

Ataxia Telangiectasia Like Disorder
Dystonia, Dopa-responsive