Literature DB >> 32885726

Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.

Emiliano Ruiz Romagnoli1, Manuel Perez Akly1, Luis A Miquelini1, Jorge A Funes1, Cristina H Besada1.   

Abstract

Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the "ears of the lynx" sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.

Entities:  

Keywords:  Hereditary spastic paraplegia; corpus callosum; ears of the lynx; magnetic resonance imaging

Mesh:

Year:  2020        PMID: 32885726      PMCID: PMC7868587          DOI: 10.1177/1971400920953820

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN: 1971-4009


  6 in total

Review 1.  Clinical features and management of hereditary spastic paraplegia.

Authors:  Ingrid Faber; Katiane R Servelhere; Alberto R M Martinez; Anelyssa D'Abreu; Iscia Lopes-Cendes; Marcondes C França
Journal:  Arq Neuropsiquiatr       Date:  2014-03       Impact factor: 1.420

Review 2.  Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Authors:  Josef Finsterer; Wolfgang Löscher; Stefan Quasthoff; Julia Wanschitz; Michaela Auer-Grumbach; Giovanni Stevanin
Journal:  J Neurol Sci       Date:  2012-05-01       Impact factor: 3.181

3.  Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

Authors:  Federica Agosta; Marina Scarlato; Edoardo G Spinelli; Elisa Canu; Sara Benedetti; Maria Teresa Bassi; Carlo Casali; Maria Sessa; Massimiliano Copetti; Elisabetta Pagani; Giancarlo Comi; Maurizio Ferrari; Andrea Falini; Massimo Filippi
Journal:  Radiology       Date:  2015-01-22       Impact factor: 11.105

Review 4.  Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Authors:  Samuel Shribman; Evan Reid; Andrew H Crosby; Henry Houlden; Thomas T Warner
Journal:  Lancet Neurol       Date:  2019-07-31       Impact factor: 44.182

5.  "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Authors:  B Pascual; S T de Bot; M R Daniels; M C França; C Toro; M Riverol; P Hedera; M T Bassi; N Bresolin; B P van de Warrenburg; B Kremer; J Nicolai; P Charles; J Xu; S Singh; N J Patronas; S H Fung; M D Gregory; J C Masdeu
Journal:  AJNR Am J Neuroradiol       Date:  2019-01-03       Impact factor: 3.825

Review 6.  Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Authors:  Felipe Franco da Graça; Thiago Junqueira Ribeiro de Rezende; Luiz Felipe Rocha Vasconcellos; José Luiz Pedroso; Orlando Graziani P Barsottini; Marcondes C França
Journal:  Front Neurol       Date:  2019-01-16       Impact factor: 4.003

  6 in total

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