| Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs. ( info) |
2/146. Schinzel-Giedion syndrome: evidence for a neurodegenerative process. We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to "coarse" facial appearance and skeletal abnormality suggest that a progressive metabolic defect underlies this syndrome. However, results of detailed investigations for metabolic disorder were all normal. ( info) |
3/146. A kinematic study of progressive apraxia with and without dementia. BACKGROUND: Prehension is an ideationally simple, cued movement requiring proximal (transport) and distal (manipulation) limb control. patients with this syndrome of progressive apraxia are unable to perform many activities of daily living that require prehension. There is little known about how this syndrome kinematically disrupts such movements or whether concurrent dementia might play a critical role. OBJECTIVES: Using prehension as a paradigm for an ideationally simple, cued functional movement, we sought to (1) characterize the kinematic features of progressive apraxia in general, and (2) contrast the kinematic differences between apraxic patients with and without dementia. methods: Eight patients with the syndrome of progressive apraxia (including five without dementia, one of whom had autopsy-confirmed corticobasal ganglionic degeneration, and three with dementia, one of whom had autopsy-confirmed Alzheimer's disease) were compared with eight age-matched normal control subjects on a prehension task using an Optotrak camera system. RESULTS: Compared with control subjects, apraxic subjects had slowed reaction time, slowed transport and manipulation kinematics, greater lateral deviation from the linear prehension trajectory, greater intermanual asymmetry, motor programming disturbances, and mild transport-manipulation uncoupling. There were minor differences between the apraxia subgroups such as greater intermanual differences and impaired grip aperture velocity in the nondemented group, and overall slower movement in the demented group. CONCLUSIONS: There are major kinematic differences between apraxic and control subjects on a prehension task. The differences between clinical-pathologic subgroups are more subtle, and the movement disorder itself rather than concurrent dementia is the greatest determinant of motor disability. ( info) |
4/146. Infantile and juvenile presentations of Alexander's disease: a report of two cases. We describe 2 new cases of Alexander's disease, the first to be reported in belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described. ( info) |
5/146. White matter hyperintensities on MRI in a patient with corticobasal degeneration. We describe a patient who presented with the clinicopathological features of corticobasal degeneration (CBD). Over the course of 8 years, the patient developed myoclonus, dystonia, and supranuclear gaze palsy associated with an akinetic-rigid syndrome. To our knowledge, no previous report of a patient with CBD has described clear-cut regional white matter changes as revealed by magnetic resonance imaging (MRI) scans. In our patient, a T2-weighted MR image of the brain showed focal atrophy of the bilateral frontal cortex and asymmetric regional hyperintensities of the subjacent white matter. These signal changes seemed to primarily reflect the progression of neuronal degeneration, especially the demyelination secondary to axonal loss or change. ( info) |
6/146. Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases. Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with an unstable CAG trinucleotide sequence. We describe a DRPLA family whose members have an allele containing an expanded CAG repeat, even in an elderly neurologically normal individual. The proband developed DRPLA at age 14. She was initially considered a sporadic case, but later her sister became symptomatic. Investigation of the number of CAG repeat units in her family revealed the 81-year-old father to have an expanded CAG repeat of 51 units. To our knowledge, such an advanced aged unaffected patient has not been previously documented. The present example may explain apparent sporadic cases. ( info) |
| Two women (patient 1, 77 years old, and patient 2, 63 years old) with strong clinical evidence for corticobasal degeneration (CBD) are presented. Patient 2 was in an early stage of the disease with only a mild disability of her left hand. In addition to the clinical characteristics, both patients presented the typical cortical reflex myoclonus. magnetic resonance imaging studies for both patients revealed nearly identical hyperintense lesions somatotopic from the left-hand primary motor cortex (M1), extending to the midline and possibly supplementary motor area (SMA) in patient 2. To our knowledge, this has not been previously described in patients with CBD. These lesions may play a role in the etiology and the development of CBD with involvement of the M1 and may correspond to the underlying pathology of demyelination or gliosis. ( info) |
8/146. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease. We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. Ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause. ( info) |
9/146. Problems and pitfalls in the diagnosis of ALS. Although misdiagnosis of amyotrophic lateral sclerosis (ALS) is rare, it may be more difficult to make a diagnosis in some groups of patients than in others. If a patient presents in the later stages of the disease, only a small number of alternative diagnoses need to be considered. These include spinal muscular atrophies of adult onset, inclusion body myositis and motor neuropathies with conduction block. The latter group in particular may present a serious diagnostic problem, as several groups have recently reported patients suffering from lower motor neuron syndrome without detectable conduction block, who responded unexpectedly to treatment with immunoglobulins. As recent laboratory results suggest that a lengthy pre-clinical period may precede clinical ALS, there is increased pressure for clinicians to make an early diagnosis so that the maximum effect can be achieved from neuroprotective drugs. Thus, diseases such as distal motor amyotrophies, pressure palsies of motor branches of hand nerves, and cervical myelopathies, which can be differentiated mainly by their time-course, may be relevant in the differential diagnosis of ALS in some patients. During recent years, a few patients have been seen in our clinic who presented with pure motor deficits but later developed a more complex pattern of vulnerability suggestive of multisystem degeneration. The existence of patients with a disease that borders the spectrum of motor neuron diseases cannot be disputed. These patients include those carrying the Huntington mutation and those suffering from guam and new guinea disease ('ALS/PD'). From our experience, however, these 'difficult' diagnoses represent less than 10% of the patients seen in our clinic. ( info) |
10/146. Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease. We report a 2-year-old boy with ethylmalonic aciduria and vasculopathy syndrome evaluated by 18fluoro-2-deoxyglucose positron emission tomographic (18FDG PET) brain scan, with intense uptake of 18FDG in the caudate nucleus and putamen bilaterally but with no morphological changes on magnetic resonance imaging (MRI). A repeat 18FDG PET brain scan 1 year later showed a significant bilateral decreased uptake of glucose in the putamen and the head of the caudate nucleus as well as a decreased uptake in the frontal lobes. On MRI, there was atrophy and watershed infarcts in the basal ganglia, explaining the loss of glucose uptake. These results reflect a selective vulnerability of the basal ganglia, their functional derangement, and ultimate degeneration. ( info) |