RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy

Roisin Sullivan¹, Wai Yan Yau^{1

2}, Viorica Chelban^{1

2}, Salvatore Rossi¹, E O'Connor^{1

2}, Nicholas W Wood^{3

2}, Andrea Cortese^{1

4}, Henry Houlden^{1

2}

Affiliations

¹ Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
² The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
³ Movement Disorders, Queen's Square Institute of Neurology, London, United Kingdom.
⁴ Department of Brain and Behavioural Science, University of Pavia, Pavia, Italy.

Roisin Sullivan et al. Mov Disord. 2020 Jul.

. 2020 Jul;35(7):1277-1279.

doi: 10.1002/mds.28074. Epub 2020 Apr 24.

Roisin Sullivan¹, Wai Yan Yau^{1

2}, Viorica Chelban^{1

2}, Salvatore Rossi¹, E O'Connor^{1

2}, Nicholas W Wood^{3

2}, Andrea Cortese^{1

4}, Henry Houlden^{1

2}

¹ Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
² The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
³ Movement Disorders, Queen's Square Institute of Neurology, London, United Kingdom.
⁴ Department of Brain and Behavioural Science, University of Pavia, Pavia, Italy.

No abstract available

Comment in

Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
da Silva Schmitt G, Martinez ARM, da Graça FF, de Lima FD, Bonadia LC, Amorim BJ, Nucci A, França MC Jr. da Silva Schmitt G, et al. Mov Disord. 2020 Oct;35(10):1889-1890. doi: 10.1002/mds.28286. Mov Disord. 2020. PMID: 33068476 No abstract available.
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H. Sullivan R, et al. Mov Disord. 2020 Oct;35(10):1890-1891. doi: 10.1002/mds.28279. Mov Disord. 2020. PMID: 33068477 No abstract available.