Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

Ines Albajar; Pablo Iruzubieta; Myriam Barandiaran; Patricia Alves; Aurora Pujol; Edgard Verdura; Jon Equiza; Iratxe Urreta; Javier Ruiz-Martínez; Miren Maneiro; Roberto Fernandez-Torron; Juan Jose Poza; Elisabet Mondragón; Adolfo Lopez de Munain

doi:10.1002/mds.29885

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

Mov Disord. 2024 Jul;39(7):1246-1248. doi: 10.1002/mds.29885.

Authors

Ines Albajar¹, Pablo Iruzubieta^{1

2

3

4}, Myriam Barandiaran^{3

5}, Patricia Alves^{5

6}, Aurora Pujol^{7

8}, Edgard Verdura^{7

8}, Jon Equiza^{1

9}, Iratxe Urreta^{10

11}, Javier Ruiz-Martínez^{1

2

3}, Miren Maneiro¹, Roberto Fernandez-Torron^{1

3

4}, Juan Jose Poza^{1

3

4}, Elisabet Mondragón¹, Adolfo Lopez de Munain^{1

3

4

12}

Affiliations

¹ Department of Neurology, Osakidetza-Basque Health Service, Hospital Universitario Donostia, Donostia-San Sebastian, Spain.
² Neurosciences, Biogipuzkoa Health Research Institute, Donostia-San Sebastian, Spain.
³ CIBERNED (CIBER, Institute Carlos III), Madrid, Spain.
⁴ Faculty of Medicine, University of Deusto, Bilbao, Spain.
⁵ Department of Neurology, Neuropsychology, Osakidetza-Basque Health Service, Hospital Universitario Donostia, Donostia-San Sebastian, Spain.
⁶ Neurodegenerative Diseases Group, Biogipuzkoa Health Research Institute, Donostia-San Sebastian, Spain.
⁷ Neurometabolic Disease Lab, Hospital Duran i Reynals, IDIBELL Gran Via 199, 08908 L'Hospitalet de Llobregat, Institut d'Investigacio Biomedica de Bellvitge, Barcelona, Spain.
⁸ CIBERER (CIBER, Institute Carlos III), Madrid, Spain.
⁹ Neurological Intensive Care Unit, Montreal Neurological Institute-Hospital, McGill University, Montreal, Quebec, Canada.
¹⁰ Clinical Epidemiology Unit, Osakidetza-Basque Health Service, Hospital Universitario Donostia, Donostia-San Sebastian, Spain.
¹¹ Clinical Epidemiology, Biogipuzkoa Health Research Institute, Donostia-San Sebastian, Spain.
¹² Neurosciences, Biodonostia Health Research Institute, Donostia-San Sebastian, Spain.

PMID: 39031430
DOI: 10.1002/mds.29885

No abstract available

Publication types

Letter
Case Reports

MeSH terms

Adult
Cerebellar Diseases / complications
Cerebellar Diseases / genetics
Female
Humans
Male
Replication Protein C* / genetics

Substances

Replication Protein C