Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Superficial siderosis (SS) of the central nervous system is a rare condition caused by chronic subarachnoid hemorrhage. Clinical manifestations typically include sensorineural hearing loss and cerebellar ataxia. Recurrent episodic encephalopathy in the setting of SS has not been reported. We describe a unique case of SS in a 67-year-old man with an 8-year history of episodic encephalopathy associated with headache and vomiting. The patient also had a history of progressive dementia, ataxia, and myelopathy. A diagnosis of superficial siderosis was made after magnetic resonance gradient-echo images showed diffuse hemosiderin staining over the cerebellum and cerebral convexities. No intracerebral source of hemorrhage was identified. The patient therefore underwent gadolinium-enhanced spinal MRI which suggested a possible vascular malformation. A therapeutic laminectomy subsequently confirmed an arteriovenous fistula which was resected. In SS, there are often long delays between symptom onset and definitive diagnosis. Early identification is facilitated by magnetic resonance imaging with gradient-echo sequences. When no source of hemorrhage is identified intracranially, then total spinal cord imaging is indicated to assess for an occult source of hemorrhage as occurred in our case.
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PMID:Episodic encephalopathy due to an occult spinal vascular malformation complicated by superficial siderosis. 1985 21

We describe a 16-year-old girl with mental retardation, myoclonic epilepsy, ataxia, mitochondrial myopathy, sensorineural hearing loss, lactic acidosis, and MRI evidence of diffuse subcortical laminar heterotopia and agyria/pachygyria. Restriction fragment length polymorphism (RFLP) and DNA sequence analyses revealed two pathogenic mutations: a heteroplasmic m.3243A>G in muscle and blood, and a new heterozygous insertion at nt697 in the doublecortin gene (DCX), resulting in a frameshift after amino acid residue 232, with a premature stop codon at amino acid residue 244. This is yet another example of genetic "double trouble" resulting in a complex phenotype.
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PMID:Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex. 2043 51

Pontine tegmental cap dysplasia (PTCD) is an exceptionally rare brain stem and cerebellar malformation characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus. The main clinical features are multiple cranial neurophaties and ataxia. Sensorineural hearing loss of varying severity is almost always present. To date, 14 cases of PTCD have been reported in the literature. We present a child with PTCD and profound bilateral sensorineural hearing loss who underwent cochlear implantation. To the best of our knowledge, cochlear implantation in PTCD has not been previously reported. Functional outcome was assessed using the Speech Perception Categories and the Speech Intelligibility Rating scale. At 22 months' postoperative evaluation, the patient who was placed into speech perception category 0 (no detection of speech) preoperatively progressed to category 3 (beginning word identification). Before implantation, the child had connected speech unintelligible. At the last follow-up, she had connected speech intelligible to a listener who has little experience of a deaf person's speech. Cochlear implantation allowed this child to improve her quality of life, increasing her self-confidence, independence, and social integration.
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PMID:Cochlear implantation in pontine tegmental cap dysplasia. 2062 14

Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration.
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PMID:Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. 2085 Aug 55

Tropical ataxic neuropathy (TAN) and epidemic spastic paraparesis (konzo) are two neurological disorders associated with the consumption of cassava (Manihot esculenta) in several African countries. TAN is characterized by sensory polyneuropathy, sensory ataxia, bilateral optic atrophy and bilateral sensori-neural deafness. It occurs in elderly individuals subsisting on a monotonous cassava diet with minimal protein supplementation. Konzo is a syndrome of symmetrical spastic paraparesis with a predilection for children and young women and invariably associated with consumption of inadequately processed bitter cassava roots with minimal protein supplementation. Despite numerous epidemiological, clinical and biochemical studies aimed at elucidating the etiological mechanisms of these disorders, their etiologies remain unknown, and there is no known treatment. The diseases continue to be prevalent in endemic areas, causing significant disability and increased mortality. A fresh appraisal of the putative etiologic mechanisms proposed for these intriguing and enigmatic syndromes is presented in this paper. Evidences against a causal role for cyanide intoxication are discussed, and evidences implicating thiamine deficiency as a unifying etiological mechanism for these neurological syndromes are presented. It is concluded that urgent research is needed to evaluate thiamine status and implement a therapeutic trial of thiamine in these debilitating neurological disorders.
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PMID:Neurological disorders associated with cassava diet: a review of putative etiological mechanisms. 2132 46

Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin photosensitivity, decreased subcutaneous adipose tissue, cerebral atrophy, dementia, basal ganglia calcifications, ataxia and apraxia. It has a complex phenotype given by genetic heterogeneity. There are five gene responsible for this syndrome: CSA, CSB, XPB, XPD and XPG, in which various mutations have been found. The biochemical effect of these mutations includes dysfunctional protein of the repair system for oxidative damage to DNA, the complex coupled to transcription and the nucleotide excision repair system. Considering the role played for these proteins and its effects on clinical phenotype when they are deficient, we suggest that these genes might be candidates for analyzing susceptibility to common chronic degenerative diseases related to oxidative stress and aging.
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PMID:[The metabolic and molecular bases of Cockayne syndrome]. 2141 36

Sudden sensorineural hearing loss is a clinical condition characterized by a sudden onset of unilateral or bilateral hearing loss. In recent years sudden deafness has been frequently described in association with anterior inferior cerebellar artery (AICA) infarction generally presenting along with other brainstem and cerebellar signs such as ataxia, dysmetria and peripheral facial palsy. The authors report a rare clinical case of a 53-year-old man who suddenly developed hearing loss and tinnitus without any brainstem or cerebellar signs. Computed tomography of his brain was normal, and the audiological results localized the lesion causing deafness to the inner ear. Surprisingly, magnetic resonance imaging showed an ischemic infarct in the right AICA territory. This case represents the fifth in the literature to date but it confirms that AICA occlusion can cause sudden deafness even without brainstem or cerebellar signs. Therefore, we recommend submitting the patient for neuroimaging, as an emergency, in order to exclude infarction of the AICA territory. By doing this, it may be possible to limit the extent of the lesion by commencing early therapy.
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PMID:Sudden sensorineural hearing loss as prodromal symptom of anterior inferior cerebellar artery infarction. 2149 55

The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.
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PMID:Infantile refsum disease with enamel defects: a case report. 2170 82

We report two patients with biopsy-proven audiovestibular sarcoidosis who presented with hearing loss, vertigo and gait ataxia. Oto-neurological investigations confirmed the presence of sensorineural hearing loss, vestibular hypofunction and abnormal auditory brainstem responses. MRI scans of the brain revealed enhancement of the vestibulo-cochlear nerves. Both patients responded to high dose oral corticosteroid treatment, although one patient has required multiple trials of immunosuppressant drug therapy because of relapsing disease.
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PMID:Two patients with audiovestibular sarcoidosis. 2215 4

We present recent advances in the genetics of recurrent vertigo, including familial episodic ataxias, migraneous vertigo, bilateral vestibular hypofunction and Meniere's disease.Although several vestibular disorders are more common within families, the genetics of vestibulopathies is largely not known. Genetic loci and clinical features of familial episodic ataxias have been defined in linkage disequilibrium studies with mutations in neuronal genes KCNA1 and CACNA1A. Migrainous vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and migraine. Bilateral vestibular hypofunction is a heterogeneous clinical group defined by episodes of vertigo leading to progressive loss of vestibular function which also can include migraine. Meniere's disease is a clinical syndrome characterized by spontaneous episodes of recurrent vertigo, sensorineural hearing loss, tinnitus and aural fullness and familial Meniere's disease in around 10-20% of cases. An international collaborative effort to define the clinical phenotype and recruiting patients with migrainous vertigo and Meniere's disease is ongoing for genome-wide association studies.
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PMID:Genetics of recurrent vertigo and vestibular disorders. 2237 97


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