Spinal cord involvement in adult-onset metabolic and genetic diseases

2018 ◽  
Vol 90 (2) ◽  
pp. 211-218 ◽  
Author(s):  
Cecilia Marelli ◽  
Ettore Salsano ◽  
Letterio S Politi ◽  
Pierre Labauge

In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes (inflammation, infections, neoplasms, vascular and spondylotic diseases). Occasionally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement can be a prominent or even predominant feature, or a secondary one. This review focuses on these rare diseases and associated spinal cord abnormalities, which can provide important but over-ridden clues for the diagnosis. The review was based on a PubMed search (search terms: ‘spinal cord’ AND ‘leukoencephalopathy’ OR ‘leukodystrophy’; ‘spinal cord’ AND ‘vitamin’), further integrated according to the authors’ personal experience and knowledge. The genetic and metabolic diseases of adulthood causing spinal cord signal alterations were identified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic diseases; (3) genetic and acquired toxic/metabolic causes; and (4) mitochondrial diseases. A number of genetic and metabolic diseases of adulthood causing spinal cord atrophy without signal alterations were also identified. Finally, a classification based on spinal MRI findings is presented, as well as indications about the diagnostic work-up and differential diagnosis. Some of these diseases are potentially treatable (especially if promptly recognised), while others are inherited as autosomal dominant trait. Therefore, a timely diagnosis is needed for a timely therapy and genetic counselling. In addition, spinal cord may be the main site of pathology in many of these diseases, suggesting a tempting role for spinal cord abnormalities as surrogate MRI biomarkers.

2013 ◽  
Vol 44 (S 01) ◽  
Author(s):  
E Hamilton ◽  
M Steenweg ◽  
L van Berge ◽  
G Scheper ◽  
T Abbink ◽  
...  

Life ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 5
Author(s):  
Guido Primiano ◽  
Paolo Mariotti ◽  
Ida Turrini ◽  
Cristina Sancricca ◽  
Andrea Sabino ◽  
...  

The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.


2008 ◽  
Vol 273 (1-2) ◽  
pp. 118-122 ◽  
Author(s):  
Kayihan Uluc ◽  
Ozdil Baskan ◽  
Kadriye Agan Yildirim ◽  
Selda Ozsahin ◽  
Mesrure Koseoglu ◽  
...  

2019 ◽  
Author(s):  
Ines El Naggar ◽  
Eva-Maria Wendel ◽  
Christian Lechner ◽  
Kathrin Schanda ◽  
Michael Karenfort ◽  
...  

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
CS Chi ◽  
HF Lee ◽  
CR Tsai ◽  
CH Chen ◽  
LH Chen

Author(s):  
Davide Tonduti ◽  
Eleonora Mura ◽  
Silvia Masnada ◽  
Enrico Bertini ◽  
Chiara Aiello ◽  
...  

2012 ◽  
Vol 12 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Camila F. Chevis ◽  
Cynthia B. da Silva ◽  
Anelyssa D’Abreu ◽  
Iscia Lopes-Cendes ◽  
Fernando Cendes ◽  
...  

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