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Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy.
Eur Neurol. 2001; 46(4):198-201.EN

Abstract

BACKGROUND AND PURPOSE

Cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease whose clinical expression is a stepwise subcortical vascular dementia. Initial presentation of the disease involves transient or stabilized focal neurological deficits, migraine and mood changes. Recently, a high prevalence of right-to-left shunt (RLS) due to patent foramen ovale has been reported in subjects with migraine. The aim of our study was to determine the prevalence of RLS in CADASIL with and without migraine.

METHODS

We performed transcranial Doppler with gaseous contrast in 5 members of an Italian family with CADASIL, diagnosed by means of genetic and skin biopsy criteria. We then compared the prevalence of RLS in 40 consecutive subjects with juvenile stroke, 80 asymptomatic subjects affected by migraine with aura and 50 normal controls.

RESULTS

A very high prevalence of RLS was found in CADASIL patients (4/5, 80%), as opposed to young subjects with ischemic stroke (15/40, 37%), asymptomatic subjects with migraine (32/80, 40%) and normal controls (8/50, 16%). All the subjects with CADASIL and migraine (4/4) showed RLS. The difference between CADASIL patients and controls was highly significant (p = 0.006).

CONCLUSIONS

We suggest an association between CADASIL and RLS, possibly due to the abnormal development of the endocardial cushion influenced by Notch 3 mutation. Our hypothesis needs to be tested in larger samples.

Authors+Show Affiliations

Department of Neurological Sciences and Vision, University of Genova, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

11721126

Citation

Angeli, S, et al. "Very High Prevalence of Right-to-left Shunt On Transcranial Doppler in an Italian Family With Cerebral Autosomal Dominant Angiopathy With Subcortical Infarcts and Leukoencephalopathy." European Neurology, vol. 46, no. 4, 2001, pp. 198-201.
Angeli S, Carrera P, Del Sette M, et al. Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy. Eur Neurol. 2001;46(4):198-201.
Angeli, S., Carrera, P., Del Sette, M., Assini, A., Grandis, M., Biancolini, D., Ferrari, M., & Gandolfo, C. (2001). Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy. European Neurology, 46(4), 198-201.
Angeli S, et al. Very High Prevalence of Right-to-left Shunt On Transcranial Doppler in an Italian Family With Cerebral Autosomal Dominant Angiopathy With Subcortical Infarcts and Leukoencephalopathy. Eur Neurol. 2001;46(4):198-201. PubMed PMID: 11721126.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy. AU - Angeli,S, AU - Carrera,P, AU - Del Sette,M, AU - Assini,A, AU - Grandis,M, AU - Biancolini,D, AU - Ferrari,M, AU - Gandolfo,C, PY - 2001/11/27/pubmed PY - 2002/1/26/medline PY - 2001/11/27/entrez SP - 198 EP - 201 JF - European neurology JO - Eur Neurol VL - 46 IS - 4 N2 - BACKGROUND AND PURPOSE: Cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease whose clinical expression is a stepwise subcortical vascular dementia. Initial presentation of the disease involves transient or stabilized focal neurological deficits, migraine and mood changes. Recently, a high prevalence of right-to-left shunt (RLS) due to patent foramen ovale has been reported in subjects with migraine. The aim of our study was to determine the prevalence of RLS in CADASIL with and without migraine. METHODS: We performed transcranial Doppler with gaseous contrast in 5 members of an Italian family with CADASIL, diagnosed by means of genetic and skin biopsy criteria. We then compared the prevalence of RLS in 40 consecutive subjects with juvenile stroke, 80 asymptomatic subjects affected by migraine with aura and 50 normal controls. RESULTS: A very high prevalence of RLS was found in CADASIL patients (4/5, 80%), as opposed to young subjects with ischemic stroke (15/40, 37%), asymptomatic subjects with migraine (32/80, 40%) and normal controls (8/50, 16%). All the subjects with CADASIL and migraine (4/4) showed RLS. The difference between CADASIL patients and controls was highly significant (p = 0.006). CONCLUSIONS: We suggest an association between CADASIL and RLS, possibly due to the abnormal development of the endocardial cushion influenced by Notch 3 mutation. Our hypothesis needs to be tested in larger samples. SN - 0014-3022 UR - https://www.unboundmedicine.com/medline/citation/11721126/Very_high_prevalence_of_right_to_left_shunt_on_transcranial_Doppler_in_an_Italian_family_with_cerebral_autosomal_dominant_angiopathy_with_subcortical_infarcts_and_leukoencephalopathy_ L2 - https://www.karger.com?DOI=10.1159/000050804 DB - PRIME DP - Unbound Medicine ER -