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

Franca Wagner, David S. Titelbaum, Renate Engisch, Emily K. Coskun, Jeff L. Waugh

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalClinical Neuroradiology
DOIs
StateAccepted/In press - Jan 29 2018

Fingerprint

Hereditary Spastic Paraplegia
Spinocerebellar Degenerations
Genetic Testing
Pyramidal Tracts
Inborn Genetic Diseases
Family Planning Services
Lower Extremity
Magnetic Resonance Imaging
Spastic Ataxia
Radiologists

Keywords

  • ARSACS
  • HSA
  • HSP
  • SPG11

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

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.

In: Clinical Neuroradiology, 29.01.2018, p. 1-7.

Research output: Contribution to journalArticle

Wagner, Franca ; Titelbaum, David S. ; Engisch, Renate ; Coskun, Emily K. ; Waugh, Jeff L. / Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. In: Clinical Neuroradiology. 2018 ; pp. 1-7.
@article{bdde405de40940729294993f96fd03b3,
title = "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.",
keywords = "ARSACS, HSA, HSP, SPG11",
author = "Franca Wagner and Titelbaum, {David S.} and Renate Engisch and Coskun, {Emily K.} and Waugh, {Jeff L.}",
year = "2018",
month = "1",
day = "29",
doi = "10.1007/s00062-018-0665-5",
language = "English (US)",
pages = "1--7",
journal = "Clinical Neuroradiology",
issn = "1869-1439",
publisher = "Urban und Vogel",

}

TY - JOUR

T1 - Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia

AU - Wagner, Franca

AU - Titelbaum, David S.

AU - Engisch, Renate

AU - Coskun, Emily K.

AU - Waugh, Jeff L.

PY - 2018/1/29

Y1 - 2018/1/29

N2 - 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.

AB - 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.

KW - ARSACS

KW - HSA

KW - HSP

KW - SPG11

UR - http://www.scopus.com/inward/record.url?scp=85041098513&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85041098513&partnerID=8YFLogxK

U2 - 10.1007/s00062-018-0665-5

DO - 10.1007/s00062-018-0665-5

M3 - Article

C2 - 29379980

AN - SCOPUS:85041098513

SP - 1

EP - 7

JO - Clinical Neuroradiology

JF - Clinical Neuroradiology

SN - 1869-1439

ER -