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Archives of Disease in Childhood Sep 1991Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual...
Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here. We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism.
Topics: Bile Ducts; Carbohydrate Metabolism, Inborn Errors; Cerebellum; Glycoproteins; Humans; Infant, Newborn; Isoelectric Focusing; Kidney; Liver; Male; Olivopontocerebellar Atrophies; Sialic Acids; Syndrome; Transferrin
PubMed: 1929507
DOI: 10.1136/adc.66.9.1027 -
Acta Neuropathologica 1993An 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency... (Review)
Review
Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case.
An 8-month-old male infant who presented in the neonatal period with failure to thrive, bilateral pleural and pericardial effusions, and hepatic insufficiency characterized by elevated liver functions tests and hypoalbuminemia was found at autopsy to have an unusual combination of olivopontocerebellar atrophy (OPCA), micronodular cirrhosis, and renal tubular microcysts. Metabolic evaluation was significant only for elevated urine dicarboxylic acids. In the brain, sections from the cerebellum showed marked atrophy of folia most severe in the vermal and paravermal regions. In addition, mild neuronal loss was present in the basis pontis and inferior olivary nuclei accompanied by gliosis. Residual Purkinje cells in the cerebellar hemispheres exhibited greatly expanded and swollen arbors, which ultrastructurally were found to contain densely packed membranous cytoplasmic body-like inclusions that had the appearance of unwinding, lamellar coils. Review of the literature shows that this constellation of findings has been associated with carbohydrate-deficient transferrin. This biochemical marker along with the distinctive clinical presentation and pathological features clearly delineates a unique subset of OPCA.
Topics: Cerebellum; Dendrites; Humans; Infant; Kidney Diseases, Cystic; Kidney Tubules; Liver Cirrhosis; Male; Olivopontocerebellar Atrophies; Purkinje Cells; Syndrome
PubMed: 8256592
DOI: 10.1007/BF00369455 -
Journal of Neurology Oct 1996The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe...
The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.
Topics: Adult; Brain; Child; Congenital Disorders of Glycosylation; Female; Humans; Italy; Magnetic Resonance Imaging; Male; Olivopontocerebellar Atrophies
PubMed: 8923302
DOI: 10.1007/BF00873975 -
Annals of Neurology Jul 1998
Topics: Corpus Striatum; Follow-Up Studies; Humans; Multiple System Atrophy; Olivopontocerebellar Atrophies; Parkinson Disease; Tomography, Emission-Computed
PubMed: 9667610
DOI: 10.1002/ana.410440133 -
Neurology Aug 2000To determine the percentage of sporadic olivopontocerebellar atrophy (sOPCA) patients who later develop multiple system atrophy (MSA).
OBJECTIVE
To determine the percentage of sporadic olivopontocerebellar atrophy (sOPCA) patients who later develop multiple system atrophy (MSA).
METHODS
Observations of the course of 51 sOPCA patients 20 years of age or older initially evaluated in an ataxia clinic over 14 years and followed at 3- to 6-month intervals for 3 months to 10 years (median 2.5 years, interquartile range 5 months to 4 years).
RESULTS
Seventeen patients evolved to develop MSA, whereas the remaining 34 manifested only progressively worsening cerebellar ataxia. The features of the MSA cases included autonomic failure and parkinsonism in 10 patients, autonomic failure without parkinsonism in six, and parkinsonism without autonomic failure in one. Using survival analysis methods, the authors estimated that 24% of subjects in this population will evolve to MSA within 5 years of the onset of sOPCA symptoms (95% CI 10% to 36%). An older age at onset of symptoms and a shorter time from onset of symptoms to first presentation in a neurology specialty clinic were both highly predictive of evolution to MSA. Six of the 17 patients who evolved to MSA died 4 months to 5 years after they had met diagnostic criteria for MSA. The estimated median survival time from time of transition was 3.5 years. In contrast, death occurred in only one of the 34 patients with sOPCA who did not evolve to MSA. Autopsy examination of all six patients with MSA who died confirmed the diagnosis.
CONCLUSIONS
Approximately one-fourth of sporadic olivopontocerebellar atrophy patients will evolve to multiple system atrophy within 5 years, and this transition carries a poor prognosis for survival. Older age at onset of ataxia and earlier presentation in a neurologic specialty clinic predicted transition to MSA.
Topics: Adult; Age Factors; Disease Progression; Female; Follow-Up Studies; Humans; Longitudinal Studies; Male; Middle Aged; Multiple System Atrophy; Olivopontocerebellar Atrophies; Prognosis; Proportional Hazards Models; Survival Analysis; Survival Rate
PubMed: 10953186
DOI: 10.1212/wnl.55.4.527 -
Veterinary Pathology Jan 2004Two otherwise healthy adult cats were presented with progressive cerebellar signs of different severity. Owners requested euthanasia. Necropsy disclosed whole cerebellum... (Comparative Study)
Comparative Study
Two otherwise healthy adult cats were presented with progressive cerebellar signs of different severity. Owners requested euthanasia. Necropsy disclosed whole cerebellum and pontine atrophy, with a severity paralleling the neurologic dysfunction. We used cell type-specific immunolabelings to characterize the lesions. The severity of the cerebellar cortex atrophy followed a general gradient from the midvermis toward the hemispheres and a local gradient from the depth of the folia toward their tip. Along these gradients, Purkinje cells were the first to disappear, followed by basket, Golgi, and stellate cells, and eventually by granule cells. Bergmann glia cells and unipolar brush cells were preserved. Pontine nuclei and the olivary complex were also severely depopulated. Neurons in the cerebellar nuclei, vestibular nuclei, and other cerebellar system-associated structures were preserved, as well as substantia nigra. Olivopontocerebellar atrophy (OPCA) in a domestic animal species was rarely reported. Some features allow tentative linking to either familial or sporadic OPCA of humans. However, the ordered disappearance of all cortical neuronal types has never been described before. Either this entity is cat specific or it might pinpoint the need for increased knowledge about differential gene expression depending on genetic background, i.e., among different species. It also would open prospects about gene product interactions within neurons.
Topics: Animals; Brain; Cat Diseases; Cats; Gene Expression; Immunohistochemistry; Neurons; Olivopontocerebellar Atrophies
PubMed: 14715964
DOI: 10.1354/vp.41-1-20 -
Clinical Neurology and Neurosurgery Sep 2008The combination of spinal muscular atrophy (SMA) with a variety of neural and extraneural defects, particularly pontocerebellar hypoplasia, has been reported. To date,...
The combination of spinal muscular atrophy (SMA) with a variety of neural and extraneural defects, particularly pontocerebellar hypoplasia, has been reported. To date, all of the reported SMA with pontocerebellar hypoplasia was from infants; however, here we report a SMA with sporadic olivopontocerebellar atrophy (sOPCA) in an adult patient. The 68-year-old male patient displayed various clinical symptoms including progressive proximal muscle weakness, muscle atrophy and muscle fasciculation with a long course of disease. EMG demonstrated that amyotrophy was due to the impairment of lower motor neurons. The clinical symptoms and the EMG were consistent with the diagnosis of SMA. The presence of cerebellar ataxia, limb tremors, muscle atrophy and weakness in the patient led to the diagnosis of sOPCA that was confirmed by the MRI results. To our knowledge, this is the first case report of combination of SMA with sOPCA in an adult. It is yet unclear whether there is a common pathogenesis between the two diseases.
Topics: Aged; Electromyography; Electrophysiology; Humans; Magnetic Resonance Imaging; Male; Muscle Weakness; Muscular Atrophy, Spinal; Olivopontocerebellar Atrophies
PubMed: 18667265
DOI: 10.1016/j.clineuro.2008.05.024 -
Clinical Nuclear Medicine Sep 2020Olivopontocerebellar atrophy is a rare neurodegenerative syndrome associated with 2 distinct disorders: multiple system atrophy and spinocerebellar ataxia. We present a...
Olivopontocerebellar atrophy is a rare neurodegenerative syndrome associated with 2 distinct disorders: multiple system atrophy and spinocerebellar ataxia. We present a case involving a 66-year-old man with adult-onset progressing cerebellar signs reflective of a cerebellar syndrome with no significant family history and unremarkable genetic testing for spinocerebellar ataxia. This case was found to be most consistent with sporadic olivopontocerebellar atrophy, which falls under the multiple system atrophy category. This diagnosis can be made using F-FDG PET/CT scanning and with MRI in some cases. However, in this case, relatively new PET/CT quantification and parametric imaging software was used for analysis, CortexID Suite.
Topics: Aged; Fluorodeoxyglucose F18; Humans; Magnetic Resonance Imaging; Male; Olivopontocerebellar Atrophies; Positron Emission Tomography Computed Tomography
PubMed: 32657870
DOI: 10.1097/RLU.0000000000003180 -
Archives of Neurology Mar 1996
Topics: Brain; Humans; Magnetic Resonance Imaging; Olivopontocerebellar Atrophies
PubMed: 8651869
DOI: 10.1001/archneur.1996.00550030014003 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2015
Topics: Adult; Female; Humans; Male; Olivopontocerebellar Atrophies; Pedigree; Young Adult
PubMed: 26252112
DOI: 10.3760/cma.j.issn.1003-9406.2015.04.038