Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Wagner, Franca; Titelbaum, David S; Engisch, Renate; Coskun, Emily K; Waugh, Jeff L (2019). Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. Clinical neuroradiology, 29(2), pp. 215-221. Springer 10.1007/s00062-018-0665-5

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PURPOSE Hereditary spastic paraplegia (HSP) and hereditary spastic ataxia (HSA) are a heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction. By identifying critical imaging findings within the clinical context of spasticity, radiologists are uniquely positioned to recommend specific genetic testing, and thus facilitate diagnosis. METHODS We present two examples of HSP and HSA that had gone clinically unrecognized for years, and in which magnetic resonance imaging played a critical role in the diagnosis. RESULTS Radiologists' awareness of HSP and HSA, combined with a critical review of the clinical history and characteristic imaging findings led to specific genetic testing and a definitive diagnosis. CONCLUSION Awareness of HSP and HSA among radiologists will expedite more accurate diagnosis, explanation of patient symptoms, recommendation for syndrome-specific treatment, and family planning considerations.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic and Interventional Neuroradiology

UniBE Contributor:

Wagner, Franca and Engisch, Renate

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1869-1439

Publisher:

Springer

Language:

English

Submitter:

Martin Zbinden

Date Deposited:

12 Apr 2018 16:45

Last Modified:

20 Jun 2019 01:30

Publisher DOI:

10.1007/s00062-018-0665-5

PubMed ID:

29379980

Uncontrolled Keywords:

ARSACS HSA HSP SPG11

BORIS DOI:

10.7892/boris.110716

URI:

https://boris.unibe.ch/id/eprint/110716

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