Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.

Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Bophara Kol, Thomas Bourinaris, Samia A. Said, Yann Péréon, Anna Heinzmann, Rabab Debs, Raul Juntas‐Morales, Victoria G. Martinez, Jean P. Camdessanche, Clarisse Scherer‐Gagou, Jean‐Médard Zola, Alkyoni Athanasiou‐Fragkouli, Stephanie Efthymiou, George Vavougios, Georgios Velonakis, Maria Stamelou, John Tzartos, Constantin Potagas, Thomas Zambelis, Caterina Mariotti, Craig Blackstone, Jana Vandrovcova, Theodoros Mavridis, Chrisoula Kartanou, Leonidas Stefanis, Nicholas Wood, Georgia Karadima, Eric LeGuern, Georgios Koutsis, Henry Houlden, Giovanni Stevanin
Movement Disorders. 2021-02-05; 36(4): 1034-1038
DOI: 10.1002/mds.28487


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1. Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5.

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia
(HSP-SPG48): A Multicenter Study on a Rare Disease.

Breza M(#)(1), Hirst J(#)(2), Chelban V(#)(3)(4), Banneau G(5)(6), Tissier L(5),
Kol B(5), Bourinaris T(3), Said SA(5), Péréon Y(7), Heinzmann A(5), Debs R(8),
Juntas-Morales R(9), Martinez VG(9), Camdessanche JP(9), Scherer-Gagou C(9), Zola
JM(9), Athanasiou-Fragkouli A(3), Efthymiou S(3), Vavougios G(10), Velonakis
G(11), Stamelou M(1)(12)(13), Tzartos J(1), Potagas C(1), Zambelis T(1), Mariotti
C(14), Blackstone C(15), Vandrovcova J(3), Mavridis T(1), Kartanou C(1), Stefanis
L(1), Wood N(3)(16), Karadima G(1), LeGuern E(5)(17), Koutsis G(#)(1), Houlden
H(#)(3)(16), Stevanin G(#)(5)(17)(18).

Author information:
(1)1st Department of Neurology, Eginition Hospital, School of Medicine, National
and Kapodistrian University of Athens, Athens, Greece.
(2)Cambridge Institute for Medical Research, University of Cambridge, Cambridge,
United Kingdom.
(3)Department of Neuromuscular Disease, Institute of Neurology, University
College London, London, United Kingdom.
(4)Department of Neurology and Neurosurgery, Institute of Emergency Medicine,
Chisinau, Republic of Moldova.
(5)Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique –
Hôpitaux de Paris, Sorbonne Université, Paris, France.
(6)Département de Génétique Médicale, Institut Fédératif de Biologie, Toulouse,
France.
(7)Department of Clinical Neurophysiology, Reference centre for NMD, CHU Nantes,
Place Alexis-Ricordeau, Nantes, France.
(8)Department of Clinical Neurophysiology, APHP, Pitié-Salpêtrière Hospital,
Paris, France.
(9)Département de Neurologie, Centre Hospitalier Universitaire de Montpellier,
Montpellier, France.
(10)Department of Neurology, Athens Naval Hospital, Athens, Greece.
(11)2nd Department of Radiology, National and Kapodistrian University of Athens,
Medical School, Attikon Hospital, Athens, Greece.
(12)Parkinson’s Disease and Movement Disorders Department, Hygeia Hospital,
Athens, Greece.
(13)School of Medicine, European University of Cyprus, Nicosia, Cyprus.
(14)Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Instituto
Neurologico Carlo Besta, Milan, Italy.
(15)Cell Biology Section, Neurogenetics Branch, National Institute of
Neurological Disorders and Stroke, National Institutes of Health, Bethesda,
Maryland, USA.
(16)Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery,
London, United Kingdom.
(17)Sorbonne Université, Institut du Cerveau, INSERM, CNRS, CHU
Pitié-Salpêtrière, Paris, France.
(18)PSL Research University, EPHE, Neurogenetics Team, Paris, France.
(#)Contributed equally

DOI: 10.1002/mds.28487
PMID: 33543803 [Indexed for MEDLINE]

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