Roberta La Piana, MD, PhD
An Assistant Professor in McGill’s Department of Neurology and Neurosurgery, Roberta La Piana has worked on rare genetic white-matter disorders since she was a medical resident in pediatric neurology and psychiatry at the University of Pavia, where she completed her clinical training. At The Neuro, Dr. La Piana’s primary area of research examines late-onset undiagnosed forms of leukoencephalopathies. This research focusses on applying MRI pattern-recognition to define and characterize genetic white-matter diseases; to identify genes responsible for new forms of adult hereditary white-matter disorders using next-generation sequencing techniques; and to understand the clinical and MRI overlap between atypical multiple sclerosis and genetic leukoencephalopathies. Dr. La Piana’s interdisciplinary profile combines a clinical background with expertise in neuroradiology and genetics.
Smith C, Care4Rare Canada Consortium, Dicaire MJ, Brais B, La Piana R. Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation. Can J Neurol Sci. 2020 Jan 28:1-4. doi: 10.1017/cjn.2020.18.
Cousyn L, Law-ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Macário MdC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, …, Nadjar Y. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943.
Rousseau PN, La Piana R, Chai XJ, Chen JK, Klein D, Tampieri D. Brain functional organization and structure in patients with arteriovenous malformations. Neuroradiology, 2019 Jun 20. doi: 10.1007/s00234-019-02245-6.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D’Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, …, Cereda C. Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review. J Clin Med. 2019 May 26; 8(5):750. https://doi.org/10.3390/jcm8050750.
Accogli A, Brais B, Tampieri D, La Piana R. Long-standing psychiatric features as the only clinical presentation of Vanishing White Matter disease. J Neuropsychiatry Clin Neurosci. 2019 May 3:appineuropsych18110279. doi: 10.1176/appi.neuropsych.18110279. [Epub ahead of print]
Vosberg DE, Beaulé V, Torres-Berro A, Cooke D, Chalupa A, Jaworska N, Cox SML, Larcher K, Zhang Y, Allard D, Durand F, Dagher A, Benkelfat C, Srour M, Tampieri D, La Piana R, …,Théoret H. Neural Function in DCC Mutation Carriers with and without Mirror Movements. Ann Neurol. 2019 Mar;85(3):433-442. doi: 10.1002/ana.25418. Epub 2019 Feb 4.
La Piana R, Leppert IR, Pike GB, Lanthier S, Brais B, Tampieri D. 3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation. J Clin Neurosci. 2018 Dec;58:25-29. doi: 10.1016/j.jocn.2018.10.080. Epub 2018 Oct 24.
Vrij-van den Bos S*, Hol JA*, La Piana R*, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI. 4H leukodystrophy: a brain MRI scoring system. Neuropediatrics. 2017 Jun; 48(3):152-160
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Care4Rare Canada Consortium, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. 2017 Apr;18(2):97-103. doi: 10.1007/s10048-016-0506-0.
La Piana R*, Cayami FK*, Tran LT, Guerrero K, Vervenne R, Ounap K, Pajusalu S, Haack TB, Wassmer E, Timmann D, Mierzewska H, Poll-The BT, Patel C, Cox H, Atik T, Onay H, Ozknay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612.
Shao YH*, Choquet K*, La Piana R, Tétreault M, Dicaire MJ, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2.
La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228.
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362.
Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240.
Noreau A, La Piana R, Marcoux C; FORGE Canada, Dion PA, Brais B, Bernard G, Rouleau GA.
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Neurogenetics. 2015 Oct;16(4):315-8. doi: 10.1007/s10048-015-0455-z.
Cayami FK*, La Piana R*, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Neuropediatrics. 2015 Jun;46(3):221-8. doi: 10.1055/s-0035-1550148.
