Hereditary Myelopathies

Peter Hedera, MD, PhD Spinal Cord Disorders p. 523-550 April 2018, Vol.24, No.2 doi: 10.1212/CON.0000000000000580
REVIEW ARTICLES
BROWSE ARTICLES
Article as PDF
-- Select an option --

PURPOSE OF REVIEW Hereditary myelopathies are very diverse genetic disorders, and many of them represent a widespread neurodegenerative process rather than isolated spinal cord dysfunction. This article reviews various types of inherited myelopathies, with emphasis on hereditary spastic paraplegias and spastic ataxias.

RECENT FINDINGS The ever-growing number of myelopathy-causing genes and broadening of phenotype-genotype correlations makes the molecular diagnosis of inherited myelopathies a daunting task. This article emphasizes the main phenotypic clusters among inherited myelopathies that can facilitate the diagnostic process. This article focuses on newly identified genetic causes and the most important identifying clinical features that can aid the diagnosis, including the presence of a characteristic age of onset and additional neurologic signs such as leukodystrophy, thin corpus callosum, or amyotrophy.

SUMMARY The exclusion of potentially treatable causes of myelopathy remains the most important diagnostic step. Syndromic diagnosis can be supported by molecular diagnosis, but the genetic diagnosis at present does not change the management. Moreover, a negative genetic test does not exclude the diagnosis of a hereditary myelopathy because comprehensive molecular testing is not yet available, and many disease-causing genes remain unknown.

Address correspondence to Dr Peter Hedera, Department of Neurology, Vanderbilt University Medical Center, 465 21st Ave S, 6140 MRB III, Nashville, TN 37240, [email protected].

RELATIONSHIP DISCLOSURE: Dr Hedera has received personal compensation as editor-in-chief of the Journal of Parkinsonism and Restless Legs Syndrome, as an editorial board member of Neurology, and as a speaker for Ipsen and Teva Pharmaceutical Industries Ltd. Dr Hedera receives royalties from Elsevier and has provided testimony as a treating clinician in legal proceedings.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Hedera reports no disclosure.

CONTINUUM AUDIO INTERVIEW AVAILABLE ONLINE

© 2018 American Academy of Neurology.