Roberta La Piana, MD, PhD
An Assistant 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 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 海角社区.听听
Dr. La Piana鈥檚 interdisciplinary profile combines a clinical background with expertise in neuroradiology and genetics. The research goals of Dr. La Piana鈥檚 lab are:听
1. to identify new forms of adult hereditary white matter disorders and their causal genes听
2. to enhance the abilities to discriminate between genetic leukoencephalopathies and acquired myelin disorders, such as the multiple sclerosis spectrum听
3. to define novel diagnostic pointers and imaging biomarkers in hereditary spastic paraparesis and cerebellar ataxias by investigating the presence of white matter abnormalities听听
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.听
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, Mac谩rio MdC, Dur茫es J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, 鈥�, 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, Cras脿 C, Crichiutti G, Dalla Giustina E, D鈥橝rrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, 鈥�, Cereda C. Molecular Genetics and Interferon Signature in the Italian Aicardi Gouti猫res Syndrome Cohort: Report of 12 New Cases and Literature Review. J Clin Med. 2019 May 26; 8(5):750. .
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, Beaul茅 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, 鈥�,Th茅oret 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, T茅treault 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-Gouti猫res syndrome. Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228.
Choquet K, Zurita-Rend贸n O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, T茅treault 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, T茅treault 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.
