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Roberta La Piana, MD, PhD

Roberta La Piana, MD, PhD
Contact Information
Phone: 
514-398-3334
Email address: 
roberta.lapiana [at] mcgill.ca
Biography: 

An Associate Professor in the Department of Neurology and Neurosurgery at the Montreal Neurological Institute and Associate Member of the Department of Radiology, Roberta La Piana has worked on rare genetic white matter disorders (leukodystrophies) since she was a medical resident in pediatric neurology and psychiatry at the University of Pavia, Italy, where she completed her clinical training. She then obtained a PhD in Neuroscience at ³ÉÈËVRÊÓÆµ.

Dr. La Piana’s interdisciplinary profile combines a clinical background with expertise in neuroradiology and genetics. The research goals of Dr. La Piana’s lab are:Ìý

1. to identify new forms of adult-onset leukodystrophies and their causal genes

2. to enhance the abilities to discriminate between leukodystrophies and acquired myelin disorders, such as multiple sclerosis

3. to define novel diagnostic pointers and imaging biomarkers in hereditary spastic paraparesis and cerebellar ataxias by investigating the presence of white matter abnormalities

In 2013 Dr La Piana launched the . These interdisciplinary monthly meetings aimed to discuss atypical white matter disease presentations have evolved into an international network including researchers and clinicians from more than 15 centers around the world.

Selected publications: 

Wong AD, Airas L, Alvarez E, Antel J, Araujo D, Bernard G, Boudjani H, Brais B, Cocozza S, Corboy JR, Fadda G, Imitola J, Lacasse MC, Longbrake EE, Macaron G, Narayanan S, Orthmann-Murphy J, Ortiz Jimenez J, Shor N, Uggetti C, Venkateswaran S, Wilson N; WM Rounds Network; Miller E, La Piana R. Towards a neuroimaging consensus for the workup of adult genetic leukoencephalopathies on behalf of the White Matter Rounds Network: State of Practice. AJNR Am J Neuroradiol. 2025 Dec 10:ajnr.A9127. doi: 10.3174/ajnr.A9127.

Simo J, Lugar HM, Miller E, Wilf-Yarkoni A, Goldberg Y, KocaaÄŸa A, Ito S, Cocozza S, Frontino G, Baldoli C, Benbachir A, Ashton C, Rouleau GA, Hershey T, Nadjar Y, La Piana R. Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review. Front Neurol. 2025 Oct 31;16:1623314. doi: 10.3389/fneur.2025.1623314. eCollection 2025. PMID: 41245872

Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G; as RareKids-CAN, RARE.Qc, CARELeuko. Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. Neurol Genet. 2025 Oct 23;11(6):e200313. doi: 10.1212/NXG.0000000000200313. eCollection 2025 Dec. PMID: 41143125

Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont PJ, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz-Martinez J, Marco De Lucas E, Sutil Berjon R, Infante Ceberio J, Indelicato E, Boesch SM, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia. Neurol Genet. 2025 Feb 21;11(2):e200253. doi: 10.1212/NXG.0000000000200253. eCollection 2025 Apr. PMID: 39996128

Sharifian-Dorche M, La Piana R. General approach to treatment of genetic leukoencephalopathies in children and adults. Handb Clin Neurol. 2024;204:335-354. doi: 10.1016/B978-0-323-99209-1.00012-0. PMID: 39322388 Review.

Dorion MF, Casas D, Shlaifer I, Yaqubi M, Fleming P, Karpilovsky N, Chen CX, Nicouleau M, Piscopo VEC, MacDougall EJ, Alluli A, Goldsmith TM, Schneider A, Dorion S, Aprahamian N, MacDonald A, Thomas RA, Dudley RWR, Hall JA, Fon EA, Antel JP, Stratton JA, Durcan TM, La Piana R, Healy LM. An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders. Mol Neurodegener. 2024 Apr 5;19(1):31. doi: 10.1186/s13024-024-00723-x. PMID: 38576039 Free PMC article.

Research areas: 
Neuroimmunological Diseases
Rare Neurological Diseases

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