Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives

Overview

Journal Front Neurol

Specialty Neurology

Date 2019 Feb 5

PMID 30713518

Citations 33

Authors

Felipe Franco da Graca

Thiago Junqueira Ribeiro de Rezende

Luiz Felipe Rocha Vasconcellos

Jose Luiz Pedroso

Orlando Graziani P Barsottini

Marcondes C Franca Jr

Affiliations

Soon will be listed here.

Abstract

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP.

Citing Articles

A rare case of hereditary spastic paraplegia: Case report.

Bijbij A, Remmal A, Bellamlih H, Africha T, Belabbes S, Zainoun B Radiol Case Rep. 2024; 20(1):837-840.

PMID: 39624703 PMC: 11609538. DOI: 10.1016/j.radcr.2024.09.158.

Episodic Dystonia in an Infant with Spastic Paraplegia Type 11.

Bhanudeep S, Koneti B Indian J Pediatr. 2024; 92(1):101.

PMID: 39472378 DOI: 10.1007/s12098-024-05318-4.

Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal study.

Montanaro D, Vavla M, Frijia F, Coi A, Baratto A, Pasquariello R Front Neurosci. 2024; 18:1416093.

PMID: 39193522 PMC: 11347332. DOI: 10.3389/fnins.2024.1416093.

A novel gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia.

Sbragia E, Assini A, Calzavara S, Carrera P, Solaro C, Di Maria E eNeurologicalSci. 2024; 35:100506.

PMID: 38883204 PMC: 11179584. DOI: 10.1016/j.ensci.2024.100506.

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Damiani D, Baggiani M, Della Vecchia S, Naef V, Santorelli F Int J Mol Sci. 2024; 25(5).

PMID: 38473862 PMC: 10932093. DOI: 10.3390/ijms25052615.

References

De Stefano N, Dotti M, Mortilla M, Federico A . Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain. 2001; 124(Pt 1):121-31. DOI: 10.1093/brain/124.1.121. View

Mc Monagle P, Byrne P, Burke T, Parfrey N, Hutchinson M . Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology. 2001; 56(1):139. DOI: 10.1212/wnl.56.1.139. View

Teive H, Iwamoto F, Camargo C, Lopes-Cendes I, Werneck L . Machado-Joseph disease versus hereditary spastic paraplegia: case report. Arq Neuropsiquiatr. 2001; 59(3-B):809-11. DOI: 10.1590/s0004-282x2001000500030. View

Fink J, Hedera P . Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Semin Neurol. 2002; 19(3):301-9. DOI: 10.1055/s-2008-1040846. View

Pizzini F, Fatemi A, Barker P, Nagae-Poetscher L, Horska A, Zimmerman A . Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 2003; 24(8):1683-9. PMC: 7974002. View

Simpson M, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A . Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003; 73(5):1147-56. PMC: 1180493. DOI: 10.1086/379522. View

Orlacchio A, Gaudiello F, Totaro A, Floris R, St George-Hyslop P, Bernardi G . A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology. 2004; 62(10):1875-8. DOI: 10.1212/01.wnl.0000125324.32082.d9. View

Nielsen J, Johnsen B, Koefoed P, Scheuer K, Gronbech-Jensen M, Law I . Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol. 2005; 11(12):817-24. DOI: 10.1111/j.1468-1331.2004.00888.x. View

Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A . Clinical and genetic study of a large SPG4 Italian family. Mov Disord. 2005; 20(8):1055-9. DOI: 10.1002/mds.20494. View

10.

Scheuer K, Nielsen J, Krabbe K, Simonsen C, Koefoed P, Sorensen S . Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. J Neurol Sci. 2005; 235(1-2):23-32. DOI: 10.1016/j.jns.2005.03.051. View

11.

Hedera P, Eldevik O, Maly P, Rainier S, Fink J . Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology. 2005; 47(10):730-4. DOI: 10.1007/s00234-005-1415-3. View

12.

Sperfeld A, Baumgartner A, Kassubek J . Magnetic resonance investigation of the upper spinal cord in pure and complicated hereditary spastic paraparesis. Eur Neurol. 2005; 54(4):181-5. DOI: 10.1159/000090294. View

13.

Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y . Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter. Neuropathology. 2005; 25(4):346-52. DOI: 10.1111/j.1440-1789.2005.00620.x. View

14.

Schule R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V . The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology. 2006; 67(3):430-4. DOI: 10.1212/01.wnl.0000228242.53336.90. View

15.

Franca Jr M, DAbreu A, Maurer-Morelli C, Seccolin R, Appenzeller S, Alessio A . Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum. Mov Disord. 2007; 22(11):1556-62. DOI: 10.1002/mds.21480. View

16.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W . Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol. 2007; 62(6):656-65. DOI: 10.1002/ana.21310. View

17.

Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R . Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008; 70(21):1959-66. DOI: 10.1212/01.wnl.0000294330.27058.61. View

18.

Samaranch L, Riverol M, Masdeu J, Lorenzo E, Vidal-Taboada J, Irigoyen J . SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Neurology. 2008; 71(5):332-6. DOI: 10.1212/01.wnl.0000319646.23052.d1. View

19.

Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor M . Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging. 2008; 19(1):52-60. DOI: 10.1111/j.1552-6569.2008.00327.x. View

20.

Erichsen A, Server A, Landro N, Sandvik L, Tallaksen C . Proton magnetic resonance spectroscopy and cognition in patients with spastin mutations. J Neurol Sci. 2008; 277(1-2):124-9. DOI: 10.1016/j.jns.2008.10.030. View