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| Year : 2020 | Volume
: 68
| Issue : 2 | Page : 524 |
Brain or Spinal Cord MRI in the Investigation of Hereditary Spastic Paraplegia? Brain First!
F Freua1, BD Ripa1, L IMacedo-Souza2, AR B Paiva3, F Kok2
1 Department of Neurology, School of Medicine, University of São Paulo; A Beneficência Portuguesa de São Paulo, Department of Neurology, São Paulo, Brazil
2 Department of Neurology, School of Medicine, University of São Paulo; Human Genome and Stem Cell Study Center, University of São Paulo, São Paulo, Brazil
3 Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil
| Date of Web Publication | 15-May-2020 |
Correspondence Address:
F Freua
Av. Dr. Enéas de Carvalho Aguiar, 255, 5° Andar, Sala 5129 - Cerqueira, César, São Paulo - 05403-900, SP
Brazil
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.284384
How to cite this article:
Freua F, Ripa B D, IMacedo-Souza L, B Paiva A R, Kok F. Brain or Spinal Cord MRI in the Investigation of Hereditary Spastic Paraplegia? Brain First!. Neurol India 2020;68:524 |
How to cite this URL:
Freua F, Ripa B D, IMacedo-Souza L, B Paiva A R, Kok F. Brain or Spinal Cord MRI in the Investigation of Hereditary Spastic Paraplegia? Brain First!. Neurol India [serial online] 2020 [cited 2022 May 17];68:524. Available from: https://www.neurologyindia.com/text.asp?2020/68/2/524/284384 |
A 37-year-old woman presented with a previous history of learning disability, started when she was 23 years old, with progressive spastic gait, cerebellar signs, cognitive decline, and peripheral neuropathy. Parents, who consented with this publication, were non-consanguineous and the patient had two other affected siblings. Brain MRI disclosed an ultrathin corpus callosum and periventricular white matter abnormalities along with the characterization of the “ear of the lynx” sign [Figure 1]. Molecular analysis of SPG11 revealed a splicing pathogenic variation c.2444 + 1G > C (NM_025137.3), consistent with the diagnosis of spastic paraplegia 11 (SPG11). SPG11 is the most frequent presentation of autosomal recessive hereditary spastic paraplegia (HSP) and has characteristic MRI findings.[1],[2] In investigation HSP, brain MRI is usually more helpful than spinal cord MRI.[3] | Figure 1: Typical imaging appearance of SPG11 in FLAIR MRI images. Ultrathin corpus callosum and periventricular white matter abnormalities and the characterization of “ear of the lynx” sign (arrows)
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Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| » References | |  |
| 1. | Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008;131:772-84.  |
| 2. | Fink JK. Hereditary spastic paraplegia: Clinical-pathologic features and emerging molecular mechanisms. Acta Neuropathol 2013;126:307-28. |
| 3. | Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 2008;82:992-1002. |
[Figure 1]
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