The Impact of the Endovascular Treatment of Cerebral Aneurysms on Headaches.

Objective: The co-occurrence of headaches and cerebral aneurysms is common in clinical practice, although a clear causal relationship has not been ascertained. We aimed to investigate the impact of endovascular obliteration of aneurysms on headaches using a cross-sectional, prospective, open-label protocol. We also sought to characterize the preexisting headaches in patients harboring cerebral aneurysms using the International Classification of Headache Disorders criteria.

Pediatric Aspects of Headache Classification in the International Classification of Headache Disorders-3 (ICHD-3 beta version).

This analysis looks at the applicability of the International Classification of Headache Disorders-3 beta (ICHD-3 beta) to various headache syndromes of children and adolescents. Areas of similarities and differences between adult and pediatric headaches are addressed as they relate to the ICHD-3 beta.

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy.

Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD. The data revealed elevated myoinositol/creatine and lactate/creatine ratios as well as decreased N-acetyl aspartate/creatine ratios.

Long-term follow-up after gene therapy for canavan disease.

Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain. Accumulation of NAA results in spongiform degeneration of white matter and severe impairment of psychomotor development. The goal of this prospective cohort study was to assess long-term safety and preliminary efficacy measures after gene therapy with an adeno-associated viral vector carrying the ASPA gene (AAV2-ASPA).

Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects.

MLD is characterized by accumulation of sulfatides in the brain. Vitamin K regulates two enzymes in sphingolipid biosynthesis and warfarin is known to lower brain sulfatides in rats and mice. We hypothesized that warfarin may mitigate the MLD phenotype by reducing the formation of sulfatides.

Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease.

Our group has previously reported the first clinical application of lithium in a child affected by Canavan disease. In this study, we aimed to assess the effects of lithium on N-acetyl aspartate (NAA) as well as other end points in a larger cohort. Six patients with clinical, laboratory and genetic confirmation of Canavan disease were recruited and underwent treatment with lithium.

Validating an Ataxia Functional Composite Scale in spinocerebellar ataxia.

The Ataxia Functional Composite Scale (AFCS) may provide a sensitive and reproducible assessment of treatment responses in studies of the spinocerebellar ataxias (SCA). We previously assessed the effects of buspirone in a cohort of patients with SCA via the International Cooperative Ataxia Rating Scale (ICARS). At each assessment period, AFCS scores were also obtained.

Treatment of spinocerebellar ataxia with buspirone.

Preliminary data suggest potential benefit of 5-HT receptor agonists in the treatment of ataxias. We studied the effects of buspirone in a cohort of twenty patients with spinocerebellar ataxia (SCA). Twenty patients were treated in this double-blind, placebo controlled, cross-over trial with either buspirone HCl 30 mg twice daily or placebo for 3 months.

Serial 1H-MRS in GM2 gangliosidoses.

GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (NAA), myo-inositol (mI), choline (Cho) and creatine (Cr).

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

We describe two sisters with a mild-onset variant of Canavan's disease who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures. Remarkably, both patients had age-appropriate head control, gross motor development, and muscle tone. There were very mild deficits in fine motor skills, coordination, and gait.

Lithium citrate for Canavan disease.

Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl aspartate levels in normal human subjects. Conversely, lithium significantly decreases whole-brain levels of N-acetyl aspartate in a rat genetic model of Canavan disease in which cerebral N-acetyl aspartate is chronically elevated.

Tc SPECT scan in a patient with occipital lobe infarction and complex visual hallucinations.

We have described a patient with occipital lobe infarction and CVH in the hemianopic field. Increased uptake in the right temporal lobe was documented on the brain Tc SPECT scan. We propose that activation of this area might be the underlying mechanism for visual hallucinations.