OBJECTIVES: To evaluate central motor conduction to lower limbs in spinocerebellar ataxia type 2 (SCA2). METHODS: Transcranial magnetic stimulation was performed to study the corticospinal tracts of 18 patients with SCA2. RESULTS: Central motor conduction time (CMCT) to lower limbs and thresholds were abnormal in 8 patients (44%); CMCT and thresholds were significantly correlated with disease duration and disability. CONCLUSIONS: Corticospinal tract involvement is more frequent than previously reported in SCA2. Prolonged CMCT and increased threshold should not be used to differentiate between various type of autosomal dominant cerebellar ataxia. Similar to that reported in Friedreich's ataxia, we suggest that examining central motor conduction to the lower limbs may assist in evaluating the progressive steps of neurodegeneration in SCA2.

Adult↗

PubMed1999

Receptors for cysteinyl-leukotrienes in human cells.

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Animals↗

PubMed1999

Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.

There have been only few studies of brain magnetic resonance imaging (MRI) in spinocerebellar ataxia (SCA) type 2. We investigated 20 SCA2 patients, from 11 Sicilian families, and 20 age-matched control subjects using MRI. Our data confirm that olivopontocerebellar atrophy (OPCA) is the typical pattern in SCA2. We found no significant correlation between infratentorial atrophy, disease duration, or the number of CAG repeats in our SCA2 patients, but there was supratentorial atrophy in 12 patients, with a significant correlation between supratentorial atrophy and disease duration. OPCA appears to represent the "core" of the SCA2: however, central nervous system involvement is not limited to pontocerebellar structures. We therefore consider central nervous system degeneration in SCA2 as a widespread atrophy. MRI is helpful in diagnosing SCA, but it is not diagnostic in the absence of clinical and molecular studies. We suggest that serial MRI may play a role in evaluating "in vivo" the progressive steps of neurodegeneration in SCA2, for a better comprehension of the pathophysiology of this disorder.

Adult↗

PubMed1999

Identification of SCA2 mutation in cases of spinocerebellar ataxia with no family history in mid-eastern Sicily.

Differential diagnosis between autosomal dominant cerebellar ataxia type I (ADCA I) and idiopathic cerebellar ataxia type P (IDCA-P) is very difficult given only clinical and neuroradiological data. The only certain distinctive characteristic is the presence or absence of family history. We observed 7 patients with late-onset cerebellar ataxia associated with other non-cerebellar signs and without a family history of the disease in which clinical signs were comparable to symptoms found in SCA2. The neuroradiological study showed olivopontocerebellar atrophy in all patients and the presence of hyperintensity of the transverse pontine fibers in 6 patients (85. 6%); molecular analysis showed SCA2 mutations in 2 patients. We also report the case of a patient who was initially considered as IDCA-P but who was later correctly identified as SCA2 with an atypical family history (false IDCA-P), after a genetic mutation was found and following an interview with the mother. Our data suggest that spinocerebellar ataxia syndrome should be defined as idiopathic not only after having excluded the possible symptomatic causes but also in the absence of family history, after having excluded the presence of genetic mutation. We believe that family history, in late-onset spinocerebellar ataxia, cannot be considered as the differential criterion among hereditary (ADCA-I) and non-hereditary (IDCA-P) forms; molecular analysis is required for a correct diagnosis.

Adult↗

PubMed1999

Clinical and molecular analysis of 11 Sicilian SCA2 families: influence of gender on age at onset.

Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of slowly progressive neurodegenerative disorders characterized by gait and stance ataxia, dysarthria and other symptoms of nervous system involvement. ADCA type I is the commonest form and is genetically heterogeneous; several loci have been identified. Spinocerebellar ataxia type 2 (SCA2) has been mapped to chromosome 12, with expanded cytosine-adenine-guanine (CAG) repeats being identified as the mutational cause of the disease. We investigated 15 families, all originating from mid-eastern Sicily, with ADCA type I; molecular studies performed in 12 families showed the SCA2 mutation to be present in 11 of them (91.6%) - the highest occurrence so far reported in the literature. The CAG repeat of the affected alleles varied between 34 and 44 repeats. Age at onset and repeat length revealed an inverse correlation. Mean age at onset was 37.32 +/- 16. 74 years, and occurred earlier in males than in females. There were no differences in mean CAG repeat units between the sexes. However, a higher instability of CAG repeats was observed for paternal transmission than for maternal transmission. Age at onset and anticipation were not related to parental transmission. Our data suggest that in SCA2 an unknown sex-linked factor may play a role in the modulation of toxic effects of the polyglutamine tract.

Adolescent↗

PubMed1998

Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2.

Seven different chromosomal loci, designated SCA1 to SCA7 (spinocerebellar ataxias), have been identified as responsible for autosomal dominant cerebellar ataxias. Five genes (SCA1, 2, 3, 6, 7) have been cloned to date and show a single type of mutation, an unstable expansion of a CAG repeat coding for a polyglutamine stretch in the corresponding protein. We describe an improved polymerase chain reaction assay, based on a touchdown protocol, for the diagnosis of spinocerebellar ataxia type 2. This method produces an efficient amplification of both normal and pathological alleles and no radioactive labelling is necessary to observe the amplification products. The pathological alleles are identified by a simple non-denaturing polyacrylamide electrophoretic separation followed by ethidium bromide staining. A comparison of this technique with previously reported methods confirmed its utility for the rapid molecular diagnosis of spinocerebellar ataxia type 2. We found that the spinocerebellar ataxia type 2 mutation is responsible for 88% of the examined autosomal dominant cerebellar ataxia type 1 families in our territory (eastern Sicily). With the rapid touchdown polymerase chain reaction method, the trinucleotide expansion was also observed in 2 ataxic patients without family history of the disease, suggesting the necessity for analysis of spinocerebellar ataxia type 2 expansion even in sporadic patients.

Alleles↗

PubMed1998

Inhibition of cAMP-phosphodiesterase by biflavones of Ginkgo biloba in rat adipose tissue.

This work compares the inhibition of cAMP-phosphodiesterase in rat adipose tissue by a mixture of Ginkgo biloba biflavones with the effect of individual dimeric flavonoids. The degree of enzyme inhibition by G. biloba biflavones was amentoflavone > bilobetin > sequoiaflavone > ginkgetin = isoginkgetin. Sciadopitysin was almost inactive.

3',5'-Cyclic-AMP Phosphodiesterases↗

PubMed1998

Reversible palsy of the hypoglossal nerve complicating infectious mononucleosis in a young child.

We report a 7-year-old boy with serologic evidence of active Epstein-Barr virus (EBV) infection who developed transient unilateral hypoglossal nerve palsy, with complete recovery within 21 days. This is, to our knowledge, the youngest reported patient with isolated hypoglossal nerve palsy in the context of EBV infection. Acute EBV infection should be considered early in the evaluation of children with twelfth nerve palsy in order to avoid extensive ancillary testing.

Child↗

PubMed1997

Cervical epidural abscess: serial MRI study.

Cervical epidural abscess (CEA) at first often goes unrecognized and it is to be suspected in patients suffering by spinal ache, root pain, neurological deficit and fever. Staphylococcus aureus is the most frequent etiologic agent. At present MRI is the study of choice for the diagnosis of CEA. We suggest a serial MRI study in close time in at first doubtful cases of CEA. When the responsible organism is not identified and there are also compressive signs of the spinal cord, the treatment of choice is surgical decompression followed by selective antibiotic therapy. The duration of antibiotic therapy may be established not only by clinical judgement, but also by serial MRI study, which gives direct information about disease evolution.

Abscess↗

PubMedDate not supplied

Leukoaraiosis and lacunar infarcts in ischemic stroke: role of age and vascular risk factors.

To assess the role that age and some vascular risk factors play in the pathogenesis of leukoaraiosis and lacunar infarcts in patients with ischemic stroke, we examined 71 consecutive patients who had undergone magnetic resonance imaging because of clinical suspicion of stroke. We collected data regarding hypertension, diabetes mellitus, cardiac diseases, hypercholesterolemia, and hematocrit, and compared patients with lacunar infarcts to those with cortical or subcortical nonlacunar lesions. Patients were then assigned to one of two age groups, Group A (< or = 66 years), or Group B (> 66 years). We found a significant correlation between the presence and severity of leukoaraiosis and the presence of lacunar infarcts in both groups. In Group A, however, lacunar infarcts were correlated to hematocrit, while in Group B they were correlated to a trend to hypertension. Leukoaraiosis was correlated to hypertension only in Group A. Although we noted a strong correlation between leukoaraiosis and lacunar infarcts suggesting a common small-vessel disease, our data indicate that different pathogenetic mechanisms are involved. We suggest that patients be grouped according to age in future studies on the role that risk factors play in the pathogenesis of leukoaraiosis and lacunar infarcts.

Age Factors↗