ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.
Subject(s)
CADASIL/genetics , Proto-Oncogene Proteins/genetics , Receptors, Cell Surface/genetics , Sequence Deletion , Adult , Aged , CADASIL/pathology , Chromatography, High Pressure Liquid , Cysteine/chemistry , Exons/genetics , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Pedigree , Protein Folding , Protein Structure, Tertiary , Proto-Oncogene Proteins/chemistry , Receptor, Notch3 , Receptors, Cell Surface/chemistry , Receptors, Notch , Repetitive Sequences, Amino Acid , Structure-Activity RelationshipABSTRACT
Flow artifacts or anatomic variants of venous sinuses often make MR venography (MRV) interpretation difficult. The authors investigated cerebral MRV in 111 subjects with normal CSF pressure to identify the most common flow abnormalities of transverse sinuses (TS). Disturbance of venous outflow in one transverse sinus was commonly observed in 30% of subjects whereas flow abnormalities of both TS occurred in 2 of 111 individuals. Subjects with flow gaps in both TS should undergo lumbar puncture to exclude increased CSF pressure.
Subject(s)
Brain/blood supply , Cerebrospinal Fluid Pressure/physiology , Cranial Sinuses/anatomy & histology , Cranial Sinuses/physiology , Magnetic Resonance Angiography , Adolescent , Adult , Aged , Blood Flow Velocity , Dominance, Cerebral/physiology , Female , Humans , Magnetic Resonance Angiography/methods , Male , Middle Aged , Phlebography/methods , Reference ValuesABSTRACT
Obesity has been shown to increase lumbar CSF pressure in healthy subjects. The authors studied lumbar CSF opening pressure in 18 obese, 33 overweight, and 49 nonoverweight subjects with normal MRI and MR venography (MRV) of the brain. No subject had a CSF pressure above 200 mm H2O. Obesity does not cause abnormal CSF pressure in subjects with normal MRV. Individuals with a CSF pressure higher than 200 mm H2O should undergo MRV to exclude cerebral venous thrombosis.
