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

Abstract:

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.

journal_name

Clin Neuroradiol

journal_title

Clinical neuroradiology

authors

Wagner F,Titelbaum DS,Engisch R,Coskun EK,Waugh JL

doi

10.1007/s00062-018-0665-5

subject

Has Abstract

pub_date

2019-06-01 00:00:00

pages

215-221

issue

2

eissn

1869-1439

issn

1869-1447

pii

10.1007/s00062-018-0665-5

journal_volume

29

pub_type

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