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

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 spasti...

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Bibliographic Details
Published in:Clinical neuroradiology (Munich) 2019-06, Vol.29 (2), p.215-221
Main Authors: Wagner, Franca, Titelbaum, David S., Engisch, Renate, Coskun, Emily K., Waugh, Jeff L.
Format: Article
Language:English
Subjects:
Adolescent
Ataxia
Frameshift Mutation - genetics
Genetic aspects
Genetic screening
Heat-Shock Proteins - genetics
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Magnetic Resonance Imaging
Male
Medicine
Medicine & Public Health
Muscle Spasticity - diagnosis
Muscle Spasticity - genetics
Mutation - genetics
Neurology
Neuroradiology
Neurosurgery
Optic Atrophy - diagnosis
Optic Atrophy - genetics
Original Article
Paralysis
Paralysis, Spastic
Proteins - genetics
Ropinirole
Spastic Paraplegia, Hereditary - diagnosis
Spastic Paraplegia, Hereditary - genetics
Spasticity
Spinocerebellar Ataxias - diagnosis
Spinocerebellar Ataxias - genetics
Young Adult
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Summary: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.
ISSN:1869-1439
1869-1447
DOI:10.1007/s00062-018-0665-5