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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven of each gender. Neuroimaging tests including pneumoencephalography, computed tomography (CT) and magnetic resonance imaging (MRI) showed severe cerebellar atrophy in all. MRI best demonstrated the cerebellar lesion, revealing great uniformity amongst the cases. Vertebrobasilar angiography was performed in two cases and showed marked hypoplasia of the cerebellar arteries, predominantly the posterior inferior cerebellar artery (PICA) and its branches. Necropsy was performed in three cases; cerebellar atrophy with loss of granular cells and diverse abnormalities of the Purkinje cells was found in two. The third, the sister of one of the other two cases, had a similar but shorter clinical course and died at three months of age. Her sister, who died at 5 years of age, presented a severe cerebellar atrophy with typical changes in the granular cell layer and Purkinje cells. In the third patient, who lived three months, only focal cerebellar folial atrophy with no microscopic changes in the granular cell layers was present. Though this case cannot objectively be included in the cerebellar atrophy syndrome with granular cell loss, her family history and clinical picture suggest the same disease. The findings observed in our series and the study of cases described in the literature, suggest that there are several forms of this disease which differ mainly in severity and neurological evolution. The cerebellar lesion seems to be a progressive atrophic process with the most severe changes during the early years of life.
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PMID:Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. 782 90

The genetics of achondroplasia are discussed, and then the clinical features. The respiratory complications are only considered when related to the neurological ones which are the concern of this paper; and their effects on morbidity and mortality. Cervicomedullary compression can cause pain, ataxia, incontinence, apnea, and respiratory arrest. One of the signs can be progressive quadriparesis which can be a presenting symptom; and may be caused by a vascular lesion as well as by cord compression. Also nerve root compression in the neural foramina can cause symptoms and signs in the limbs. Enlargement of the head is a feature of achondroplasia. This may be due to subdural haematoma related to the wide subarachnoid spaces, and to trauma. Hydrocephalus is common, and may be non-communicating and due to aqueduct stenosis, but is much more often communicating and the result of raised intracranial venous pressure. Shunting may be necessary, but surgery directed towards relieving the venous pressure may be more logical. Otitis media often affects these children, and can cause deafness and subsequently delayed language development. Sleep disturbances can be the result of both neurological and respiratory complications. Apart from the treatment for hydrocephalus the most important decision is often the question of operating on the cervical medullary compression. Risk factors such as brisk reflexes, small foramen magnum, and central hypopnea, can be an indication for surgery; but timing can be difficult as the cord compression can resolve spontaneously. The intelligence levels of these children are usually normal, and studies have shown a surprisingly high level of satisfaction with the services provided.
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PMID:The neurological complications of achondroplasia. 1076 26

Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of NKH. The parents had normal phenotypes, and the older brother and the younger sister developed this disease in the neonatal period. The older brother manifested as intractable epilepsy, severe spastic diplegia, intellectual disability, an increased level of glycine in blood and cerebrospinal fluid, an increased glycine/creatinine ratio in urine, and an increased ratio of glycine concentration in cerebrospinal fluid and blood. The younger sister manifested as delayed language development, ataxia, chorea, mental and behavior disorders induced by pyrexia, hypotonia, an increased level of glycine in cerebrospinal fluid, and an increased ratio of glycine concentration in cerebrospinal fluid and blood. High-throughput sequencing found a maternal missense mutation, c.3006C>G (p.C1002W), and a paternal nonsense mutation, c.1256C>G (p.S419X), in the GLDC gene in both patients. These two mutations were thought to be pathogenic mutations by a biological software. H293T cells transfected with these two mutants of the GLDC gene had a down-regulated activity of glycine decarboxylase. NKH has various phenotypes, and high-throughput sequencing helps to make a confirmed diagnosis. Atypical NKH is associated with the downregulated activity of glycine decarboxylase caused by gene mutations.
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PMID:[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene]. 2904 6