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)

The ability to define subpopulations of immunologically competent lymphocytes has permitted an enhanced understanding of the interaction between functionally distinct components of the immune system. T cells can provide help in antibody formation or they may suppress antibody production. Abnormal immunoregulatory mechanisms have been demonstrated in the hyperimmunoglobulin E-recurrent infection syndrome. This disorder is associated with a marked elevation of IgE and specific elevations of IgE antibodies directed toward staphylococcal antigens. Abnormal T cell regulation of immune responses has been demonstrated. Graft-versus-host disease (GVHD) occurs in an immunodeficient patient who has received an infusion of immunocompetent cells. The diagnosis of graft-versus-host (GVH) reaction may be complicated by the protean manifestations of the disorder. The acute form, consisting of a maculopapular rash, fever, and diarrhea, may be confused with acute infection or drug reaction. Chronic GVHD has been incorrectly diagnosed as histiocytosis X, acrodermatitis enteropathica, or scleroderma. Utilizing chromosome markers and/or identification of histocompatibility antigens, the presence of circulating lymphocytes from donor immunocompetent cells (blood transfusion, maternal source) can be documented. The development of sensitive technics for identifying cells can establish a precise diagnosis. Certain immunodeficiency disorders can be identified by biochemical means. Biotin-dependent multiple carboxylase enzyme deficiency is associated with a chronic dermatitis, alopecia, ataxia, and secondary infection of the skin with Candida. The disorder responds promptly to the administration of biotin with correction of dermatologic, neurologic, and immunologic abnormalities.
J Am Acad Dermatol 1984 Oct
PMID:New insight into the causes of immunodeficiency disorders. 638 1

A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while alpha-galactosidase and alpha-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.
Arch Dermatol 1984 Oct
PMID:beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 643 42

Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia in an infant with lymphoma or leukemia may result in radiation therapy with conventional dosages, which is contraindicated in ataxia-telangiectasia patients.
Dermatol Clin 1995 Jan
PMID:Ataxia-telangiectasia. 771 35

Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidism, nystagmus, growth and mental retardation, and microcephaly, who developed a progressive encephalopathy with ataxia and optic atrophy at 2.5 years of age. In addition to a deficient cystine level identified on a hair sample, a disturbance in the composition of other amino acids was present. Although features were reminiscent of osteosclerosis, ichthyosis, brittle hair due to trichothiodystrophy, impaired intelligence, decreased fertility, and short stature (SIBIDS) and could represent a variant of this disorder, findings in our patient may reflect a new trichothiodystrophy symptom complex that carries a poor prognosis for survival beyond childhood.
Pediatr Dermatol 1993 Jun
PMID:Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex? 834

Erythrokeratodermias are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overlapping features including hyperkeratosis and erythema. We ascertained five extended pedigrees with different phenotypes for a linkage study. Three families presented with localized erythrokeratodermia variabilis, and one with erythrokeratodermia and ataxia. Another family had Greither disease associated with variable hyperkeratotic plaques. Despite their phenotypic differences, both erythrokeratodermia variabilis and erythrokeratodermia with ataxia map to a common region in 1p34-p35. Multipoint linkage and haplotype analyses place erythrokeratodermia variabilis between the marker D1S496 and D1S186 with a maximum LOD score of 12.88. Our linkage results provide compelling evidence for genetic homogeneity among families of mixed European and French-Canadian origin. In contrast, results excluded Greither's disease from the established erythrokeratodermia variabilis gene region indicating genetic heterogeneity of erythrokeratodermias. Based on recombinations, two genes assigned to 1p34-p35 were excluded: cartilage matrix protein and avian myelocytosis viral oncogene. Connexin-37 (GJA4), a member of the connexin gene family, maps within the erythrokeratodermia variabilis region and is an attractive candidate gene. Direct sequencing of the coding region of GJA4 in four patients revealed several variations, including a novel polymorphism within the 5' cytoplasmic domain, but no pathogenic mutations were found, thus excluding Connexin-37 as a candidate. There is evidence, however, that other epidermally expressed connexins cluster in this region, and one may yet be determined to play a role in the pathogenesis of erythrokeratodermia variabilis.
J Invest Dermatol 1997 Nov
PMID:Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes. 934 97

The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described. Mild ocular photophobia was present from childhood, and acute skin reactions occurred upon exposure to sunlight. Basal and squamous cell carcinomas developed after his twenty-seventh year. In his late forties progressive neurologic symptoms emerged, which included intellectual decline, mild chorea and ataxia, and marked cerebral and cerebellar atrophy. Such neurologic abnormalities are very unusual in XP-F. Similar symptoms have been described in only one of 17 other XP-F individuals. His approximately 5-fold reduced activity of nucleotide excision repair in cultured cells, combined with moderately affected cell survival and DNA replication after UV exposure, are typical of XP-F. The recent cloning of the XPF gene allowed a molecular genetic analysis of this unusual patient. XP42RO, representing the second case studied in this respect, turned out to be homozygous for a point mutation in the XPF gene, causing an R788-->W substitution in the encoded protein. Surprisingly, this mutation had also been found in one allele of the other unrelated Caucasian XP-F case. The amount of mutated XPF protein is strongly reduced in cells from XP42RO, presumably due to a conformational change. Biochemical, genetic, and clinical data all indicate the presence of considerable residual repair activity, strongly suggesting that the R788W mutation is leaky.
J Invest Dermatol 1998 May
PMID:Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 957 55

Eucalyptus oil is well documented as being extremely toxic if ingested. We report a case of systemic eucalyptus oil toxicity from topical application. A 6-year-old girl presented with slurred speech, ataxia and muscle weakness progressing to unconsciousness following the widespread application of a home remedy for urticaria containing eucalyptus oil. Six hours following removal of the topical preparation her symptoms had resolved, with no long term sequelae.
Australas J Dermatol 1998 Nov
PMID:Topical eucalyptus oil poisoning. 983 28

A 6-year-old girl with consanguineous parents presented with a history of progressive ataxia and patchy, segmental pigmentary changes, some reminiscent of Blaschko's lines. There was no evidence of oculocutaneous telangiectases or signs of immunodeficiency. A clinical diagnosis of ataxia--telangiectasia (AT) was suggested and confirmed by the presence of a low serum IgA, raised alpha-fetoprotein and chromosomal rearrangements of chromosomes 7 and 14. This case of AT is unique for having hypopigmentation and hyperpigmented patches adjacent to each other, which is a feature that has been described as 'cutis tricolor', and is unusual for having pigmentary skin changes, some in the lines of Blaschko without telangiectases. Clinicians should be aware that a diagnosis of AT may be made in the absence of telangiectases.
Br J Dermatol 2001 Feb
PMID:Pigmentary anomalies in ataxia--telangiectasia: a clue to diagnosis and an example of twin spotting. 1125 75

A 48-year-old man with a history of sarcoidosis was transferred to the Mayo Clinic for evaluation and management of progressive neurologic decline. Two years before admission, he was admitted to a local hospital with mental status changes accompanied by ataxia and severe headache. A diagnosis of pulmonary and central nervous system sarcoidosis was made based on computed tomography of the head, lumbar puncture, and chest radiography. A mediastinoscopy with lymph node biopsy exhibited noncaseating granulomas and negative stains for microorganisms. Prednisone therapy was initiated at 80 mg/day. Clinical improvement was apparent for 13 months during steroid therapy until the slow taper reached a dosage of 20 mg/day. At that time, the patient was readmitted to the local hospital with severe confusion and skin lesions. When intravenous methylprednisolone therapy for presumed central nervous system sarcoidosis did not improve the patient's mental status, he was transferred to the Mayo Clinic. Physical examination of the thighs revealed large, well-marginated, indurated, irregularly bordered, violaceous plaques and rare, umbilicated, satellite papules with central hemorrhagic crusts (Fig. 1A). Superficially ulcerated plaques with a similar appearance to the thigh lesions were coalescing around the lower legs (Fig. 1B). A skin biopsy specimen of the thigh demonstrated abundant numbers of encapsulated organisms and minimal inflammatory response (Fig. 2). Skin, blood, and cerebrospinal fluid cultures confirmed the presence of Cryptococcus neoformans. Amphotericin and flucytosine combination therapy was initiated, and steroid dosages were gradually tapered. A test for human immunodeficiency virus was negative. The patient was dismissed from hospital after a complicated 2-month course resulting in improved mental status but progression of the lower extremity ulcerations as a result of polymicrobial infection.
Int J Dermatol 2002 Nov
PMID:Cryptococcal infection in sarcoidosis. 1245 1

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early infantile form, the late infantile form and the juvenile/adult form. We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. An electron-microscopic study of a skin biopsy showed membrane-limited vacuoles in the cytoplasm of the endothelial cells, pericytes and fibroblasts. Assays of enzymatic activity in cultured fibroblasts showed a marked decrease in both beta-galactosidase and neuraminidase (sialidase). The substance contained in the cytoplasmic vacuoles appears to be glycoproteins with sialic acid, which is a terminal glycosyl residue, because the cytoplasm of the endothelial cells of the vessels and pericytes are stained by the Limax flavus agglutinin, a lectin that binds specifically with sialic acid. This technology may be useful for easy investigation of the distribution of the accumulation of such substances in the central nervous system.
Br J Dermatol 2003 Aug
PMID:A case of galactosialidosis. 1293 52


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