Longitudinally extensive spinal cord infarction in CADASIL

Most stroke is multifactorial with multiple polygenic risk factors each conferring small increases in risk interacting with environmental risk factors, but it can also arise from mutations in a single gene. This review covers single-gene disorders which lead to stroke as a major phenotype, with a focus on those which cause cerebral small vessel disease (SVD), an area where there has been significant recent progress with findings that may inform us about the pathogenesis of SVD more broadly. We also discuss the impact that next generation sequencing technology (NGST) is likely to have on clinical practice in this area. The most common form of monogenic SVD is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, due to the mutations in the NOTCH3 gene. Several other inherited forms of SVD include cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, retinal vasculopathy with cerebral leukodystrophy, collagen type IV α1 and α2 gene-related arteriopathy and FOXC1 deletion related arteriopathy. These monogenic forms of SVD, with overlapping clinical phenotypes, are beginning to provide insights into how the small arteries in the brain can be damaged and some of the mechanisms identified may also be relevant to more common sporadic SVD. Despite the discovery of these disorders, it is often challenging to clinically and radiologically distinguish between syndromes, while screening multiple genes for causative mutations that can be costly and time-consuming. The rapidly falling cost of NGST may allow quicker diagnosis of these rare causes of SVD, and can also identify previously unknown disease-causing variants.

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“…These seem to be more likely to occur around the puerperium [9]. Spinal cord involvement is very rare but a few cases have been reported [10].…”

Section: Cadasilmentioning

confidence: 98%

Monogenic causes of stroke: now and the future

Tan

Markus

2015

J Neurol

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“…Although the last two patients may be considered as misdiagnosed cases, the clinical findings of myelitis, an extremely rare finding in CADASIL (17), in the first patient were unusual and may raise the question of a concurrent autoimmune response. However, the history of stroke and the extensive leukoencephalopathy on brain MRI should not be overlooked.…”

Section: Discussionmentioning

confidence: 99%

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series

Khan

Abedi

et al. 2020

Front. Neurol.

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“…Oligoclonal bands in the cerebrospinal fluid (CSF), a characteristic finding in MS, are extremely uncommon in CADA-SIL, but they have been reported [22,23] . The occurrence of spinal cord lesions, especially longitudinal ones, are exceedingly rare in CADASIL and may be due to ischemia [24] but, when present, they evoke a diagnostic challenge [25] . In one family with CADASIL, 3 members presented with cord lesions in the posterocentral area, cerebral lesions in locations compatible with both demyelination and typical CADASIL, positive antinuclear antibodies and CSF oligoclonal bands [26] .…”

Section: Possible Comorbidity Of Ms and Cadasilmentioning

confidence: 99%

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy vs. multiple sclerosis. Either one or sometimes both?

Paraskevas¹,

Constantinides²,

Kapaki³

2018

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), is the most common cause of inherited cerebral small vessel disease, inherited stroke and inherited vascular dementia. It is not infrequent for CADASIL to be mistaken and mistreated for multiple sclerosis (MS). A much less frequent but existing scenario is the co-occurrence of CADASIL and MS (or MS-like inflammatory condition). Such patients may present with spinal cord lesions, brain or spinal cord enhancing lesions, positive oligoclonal bands and high IgG index in the cerebrospinal fluid and good response to corticosteroids or immunomodulating treatments. CADASIL through various mechanisms may trigger or modulate autoimmune reactions, and either be complicated by an inflammatory component or cause an MS-like disorder.

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Longitudinally extensive spinal cord infarction in CADASIL

Cited by 8 publications

References 8 publications

Monogenic causes of stroke: now and the future

Monogenic causes of stroke: now and the future

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy vs. multiple sclerosis. Either one or sometimes both?

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