Seventy-seven families with autosomal dominant cerebellar ataxia were analyzed for the CAG repeat expansions causing spinocerebellar ataxia (SCA) types 1, 2, 3, and 6. The SCA1 mutation accounted for 9%, SCA2 for 10%, SCA3 for 42%, and SCA6 for 22% of German ataxia families. Seven of 27 SCA6 patients had ...

The relationship between the features of MRI in brainstem and pathological findings was investigated in eight autopsy cases with progressive supranuclear palsy (PSP). Features of T1-weighted images at midbrain level were atrophy of tegmentum and tectum, and dilatation of aqueduct. Histologically, these findings were consistent with atrophy of periaqueductal gray ...

A patient with celiac disease and relapsing-progressive symptoms suggesting brainstem and cerebellar involvement underwent serial MRIs. The first examination revealed multiple enhancing and nonenhancing lesions. Thereafter, a large enhancing cerebellar lesion appeared, followed by severe cerebellar atrophy. The presence of structural neuronal damage was confirmed by proton MR spectroscopy and ...

This study investigates the phenomenon of crossed cerebellar diaschisis in head injury patients. METHODS: We visually compared fluorine-18-fluorodeoxyglucose (FDG)-PET images to radiograph computed tomography or magnetic resonance images in 19 patients with head injury. RESULTS: We found that of 68 focal unilateral lesions, 40% were associated with contralateral cerebellar hypometabolism ...

Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did ...

A 2-year-old girl with bilateral sensorineural deafness showed pontine hypoplasia as well as a bulging contour of the pontine tegmentum on magnetic resonance imaging (MRI). There were no bilateral responses of brainstem auditory-evoked potentials (BAEPs). The absent late components of blink reflex (BR) indicated brainstem dysfunction. Chromosomal abnormalities and neurodegenerative ...

A 25-year-old man presented in March 1996 with progressive dysarthria, cerebellar ataxia, and dystonia, which began after he inhaled heroin vapor for a full day 2 months previously. The patient had a 2-year history of heroin inhalation. Magnetic brain stimulation showed waveform dysynchronization suggestive of motor pathway perturbation above the ...

A 90-year-old man with a longstanding bilateral essential tremor presented with right-sided weakness of sudden onset. The CT scan of the brain showed a hypodense area in the left side of the pons consistent with an infarction. The paralysis disappeared without recurrence of the tremor on the right, but the ...

A comprehensive review of the literature has shown that the treatment of choice for cerebellar astrocytomas has primarily been gross-total resection of the mass and gross-total resection of the enhancing portion of pilocytic astrocytomas. Most large scale studies of postresection survival rates of patients with cerebellar astrocytomas were conducted when ...

Fluctuant and progressive hearing impairment in a patient with a wide vestibular aqueduct has been called the 'large vestibular aqueduct syndrome'. Recently reports of magnetic resonance imaging (MRI) studies describe enlargement of the endolymphatic sac and duct in patients shown to have large vestibular aqueducts by computed tomography (CT). A ...

The neuropathology of narcolepsy is unknown. Recently, Plazzi et al. (1) reported magnetic resonance imaging (MRI) abnormalities in the pontine tegmentum of three patients with long-standing idiopathic narcolepsy. Considering the localization of the neuroradiological findings in the pontine reticular formation, where rapid eye movement (REM) sleep is generated, the authors ...

A case of cerebellar lipomatous medulloblastoma in a 55-year-old male subject, clinically presenting with signs of intracranial hemorrhage and cerebellar dysfunction, is described. Magnetic resonance imaging revealed an enhancing irregular vermian lesion invading the left cerebellar hemisphere. The patient underwent a craniotomy with total excision of tumor. Histologic examination revealed ...

Three cases of superficial siderosis of the central nervous system are reported here. Using a 1.0-T magnetic resonance (MR) unit, typical hypointense rims were observed under the brain surface on T2-weighted images. In one patient, marked atrophy of the superior cerebellar vermis and cerebellar parenchymal hyperintensity were also detected. The ...

Clinicians occasionally receive radiographic reports noting pontine lesions in their patients who have undergone magnetic resonance imaging (MRI) for symptoms not referable to the pons. Based on these relatively isolated lesions, patients may receive the presumptive radiographic diagnosis of central pontine myelinolysis (CPM). Review of our MRI database from the ...

We describe a 66-year-old man with a 20-year history of ataxic gait who suddenly developed diplopia on rightward gaze. Neurologic examination revealed right hemi-ataxia and hemi-hypesthesia, and left internuclear ophthalmoplegia. MRI showed a cavernous angioma in the left tectum, mild right cerebellar atrophy, and left interior olivary hypertrophy. Single photon ...

We present clinical, biochemical and cranial magnetic resonance imaging data of six pediatric patients with L-2-hydroxyglutaric aciduria. All the children have the same ethic origin and lived in the northern area of Portugal. Our findings reinforce the described phenotype of this rare metabolic disease with mental deficiency, severe cerebellar dysfunction, ...

A severe rest tremor arose in a patient's right arm 9 months after a pontine tegmental hemorrhage. Magnetic resonance studies at 4 and 10 months showed residual hemosiderin in the pons and increasing hypertrophic olivary degeneration (HOD) affecting primarily the left olive. The tremor was refractory to pharmacotherapy (clonazepam, propranolol, ...

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized ...

OBJECTIVE: Our objective was to determine the familial incidence of large vestibular aqueduct syndrome (LVAS) detected by CT and MR imaging and to propose the genetic inheritance of LVAS. MATERIALS AND METHODS: We retrospectively reviewed cases of LVAS revealed by temporal-bone CT and MR imaging at the University of Utah ...

The detailed clinical, electrophysiological and imaging data of three German autosomal dominant cerebellar ataxia (ADCA) families are reported. Linkage to SCA2 was established using microsatellite markers D12S105, D12S1339(1328), D12S1304(1329) yielding a lod score exceeding +3.0 for the combined data. Analysis of the pedigree data provided evidence of anticipation as observed ...

After long-standing malnutrition a 15-month-old boy with signs of kwashiorkor was admitted in a moribund state with serious hyponatraemic dehydration, hypothermia, somnolence, and signs of a pontine disconnection syndrome. Folic acid levels were below the detection level in the presence of normal cobalamin levels. MRI of the brain showed global ...

Lhermitte-Duclos disease (LDD) is a disorder sometimes referred to as a dysplastic gangliocytoma of the cerebellum. This is a focally indolent growth of the cerebellar cortex in which the folia enlarge due to a profusion of dysplastic cortical neurons and a thickening of the molecular layer. Loss of Purkinje cells ...

We report the clinical course and CT and MRI findings in a case of heat-stroke-induced cerebellar atrophy. Although the cerebellar syndrome was severe concomitant with the onset of heat stroke, no abnormality was observed on brain CT in the first 2 weeks following the event. Cerebellar atrophy was first noted ...

PURPOSE: Our goal was to describe the involvement of the dentate nuclei in AIDS patients with CNS cryptococcosis since this finding has not been emphasized in previous radiological literature. METHOD: Plain and contrast-enhanced CT of the brain (10 and 10), MR studies (1 premortem and 1 postmortem), and autopsy findings ...

We report a case of Lhermitte-Duclos disease (cerebellar gangliocytoma) in a 7-year-old child with café au lait spots and mild cerebellar symptoms. Findings on computed tomography 4 years earlier had been normal. Subsequent development of intracranial hypertension caused by hydrocephalus led to ventriculoperitoneal shunting. The appearance of the cerebellum on ...

Functional maturation of human cerebellar structures was previously difficult to evaluate with positron emission tomography (PET) because of scanner resolution. Only vermis and cerebellar hemispheres could be reliably identified with 2-deoxy-2[18F]fluoro-D-glucose (FDG) PET. In the present study, we have used a new high resolution PET system, the Siemens EXACT-HR, to ...

A case of adult-onset adrenoleukodystrophy involving predominantly the cerebellum and brain stem is described. The patient was a 30-year-old man with no family history of adrenoleukodystrophy. His neurological symptoms were progressive cerebellar ataxia and spastic paraparesis. CT showed atrophy of the cerebellum and brain stem. MRI disclosed lesions, enhancing partially ...

We reviewed 7 cases with posterior fossa structural abnormalities (3 tumors, 2 megacisterna magna and 2 Dandy-Walker syndrome) presenting with neuropsychiatric symptomatology. Derangement in the balance of dopamine, serotonin and noradrenergic networks has been implicated in the pathogenesis of schizophrenia, affective and even personality disorders. Disruption of the cerebellar output ...

We investigated a family with optic atrophy which occurred in childhood or early adulthood plus late-onset cerebellar ataxia. The magnetic resonance imaging in the proband revealed cerebellar atrophy. The proband and her brother were homoplasmic for the most common mitochondrial DNA (mtDNA) 11778 mutation associated with Leber's hereditary optic neuropathy ...

A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earlier described microlissencephaly syndromes, ...

The advent of magnetic resonance imaging and angiography has clarified the location and vascular basis for vertigo of a syndromal type. The composite presentation of a vestibular symptom with evidence of cranial nerve or cerebellar dysfunction suggests a lesion within the pons, medulla, or cerebellum. The location may be exactly ...

Relationships among cerebellar terminals (CTs), dendrites of thalamocortical projection neurons (TCNs), and dendrites of local circuit neurons in the ventral lateral nucleus of the cat thalamus were analyzed quantitatively by observing several series of serial ultrathin sections and by using a computer-assisted program for the three-dimensional reconstruction from serial ultrathin ...

We report on monozygotic twins with different clinical phenotypes of X-linked adrenoleukodystrophy. At the age of 10 years both boys were neurologically asymptomatic. The first cranial magnetic resonance examination showed normal findings in the first twin and parietooccipital demyelination in the second. The latter developed behavioral problems 9 months later, ...

A 23-year-old man presented with a 2-week history of intracranial hypertension. CT showed a large, nonenhancing cerebellar mass with surrounding calcification and displacement of the fourth ventricle. MRI revealed a septate lesion, with low signal on T1-weighted and high signal on T2-weighted images. The cerebellar tonsils were displaced below the ...

Cerebellar ataxia is one of the most disabling symptoms of multiple sclerosis (MS) and also one of the least responsive to pharmacotherapy. However, cerebellar symptoms often improve dramatically in MS patients by brief, extracerebral applications of picotesla flux electromagnetic fields (EMFs). This report concerns two MS patients with chronic disabling ...

Hypoxic encephalopathy and osmotic demyelination are independent clinical entities. We describe a rare case with these two complications as demonstrated by magnetic resonance imaging (MRI). A 58-year-old woman had adrenal crises twice a decade due to Sheehan syndrome. At the second crisis, hyponatremia was remarkable with consciousness disturbance which was ...

We reviewed a 7-year series of brain MRI examinations to determine the frequency and clinical significance of superficial siderosis of the central nervous system (SS). SS was defined by widespread bilateral signal loss at the surfaces of the cerebral or cerebellar hemispheres, the brain stem and the spinal cord on ...

This population-based study refers to 78 Swedish children with non-progressive ataxia from a total population of 3.1 million inhabitants. Inclusion criteria were ataxic gait without any signs of spasticity, dyssynergia, dysmetria and intention tremor. CT and/or MRI studies were available from 70 patients (90%). Infratentorial pathology was revealed in 27%, ...

Neuroanatomic, pathologic, and neurobehavioral studies point to a cerebellar and parietal abnormality in autism. We used a standardized protocol to examine neurologic function in 28 pediatric autistic subjects and 24 pediatric normal healthy volunteer controls. As a group, the autistic subjects had quantitative measures from magnetic resonance imaging suggesting hypoplasia ...

There are conflicting reports on the relationship between cerebellar vermal lobule hypoplasia and autism. Using quantitative magnetic resonance image analysis, we measured the cerebellar vermis in 125 normal individuals with a broad age range and 102 patients with a variety of neurogenetic abnormalities. We conclude that hypoplasia of cerebellar vermal ...

We describe a case of adult onset Dandy-Walker syndrome. A 35-year-old woman presented with symptoms of increased intracranial pressure and cerebellar signs. After excision of the cyst wall of the posterior fossa. The patient recovered completely. The role of magnetic resonance imaging in establishing the diagnosis and following the course ...

BACKGROUND: Hypoglossal neurinoma is very rare; our case is the 46th case. CASE DESCRIPTION: We report a 59-year-old woman with hypoglossal neurinoma. Her equilibrium state was disturbed due to vestibular dysfunction and she exhibited right hypoglossal palsy with glossal hemiatrophy. Computed tomography (CT) revealed a large bony erosion of the ...

Cerebellar glucose metabolism was studied in one patient with a hemipontine haematoma in order to investigate remote metabolic effects within the cerebellar lobules. In the patient, who suffered a circumscribed hemipontine haemorrhage, and in three normal subjects cerebellar glucose metabolisms was studied using 18F-2-fluoro-2-deoxy-D-glucose and high-resolution positron emission tomography (PET). ...

Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal intensities from four 15-mm slices divided into 0.84-ml single-volume elements. Because patients with ...

Central pontine myelinolysis (CPM) is a neurologic disorder once thought to be uniformly fatal. With the introduction of CT and MRI there was an increasing number of reports on nonfatal cases of CPM. Nearly all reports on nonfatal cases describe severe clinical syndromes with tetraparesis, bulbar palsy, and coma. We ...

A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of ...

Central pontine myelinolysis (CPM) is a rare syndrome generally linked to hyponatremia. Autopsy and imaging studies described demyelination in the central pons, in some cases combined with thalamic, internal capsular, hemispheric and cerebellar white matter lesions. The clinical syndrome and prognosis spans from asymptomatic patients displaying only imaging lesions to ...

BACKGROUND: Gait abnormalities often result from disorders intrinsic to the cerebellum. Gait difficulties resulting from frontal lobe disease are less common but well recognized. The pathophysiologic mechanism of this type of ataxia is not well understood. One promising explanation implicates involvement of the frontopontocerebellar tract (Arnold's bundle). This tract originates ...

Proton magnetic resonance spectroscopy (MRS) and MRI were carried out in 11 patients with multiple sclerosis who had clinical evidence of severe cerebellar involvement, 11 multiple sclerosis patients (of similar age and disease duration) who had minimal or no signs of cerebellar disease, eight patients with autosomal dominant cerebellar ataxia ...

Between 1990 and 1992, 14 children were seen in whom a clinical diagnosis of olivopontocerebellar atrophy (OPCA) had been made. The majority of patients presented with cerebellar ataxia and hypotonia. Five children had a family history of a similar illness in first-degree relatives. All cases had undergone clinical and neurologic ...