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)

Fifteen patients with chronic sensory ataxia caused by a large-fiber sensory neuropathy were studied and followed up for a period of 17.4 years (range, 4 to 41). When first seen, they had distal paresthesias and sensory ataxia of slow onset and progression, areflexia, normal strength, and a profound loss of proprioceptive and kinesthetic sensation extending up to the most proximal joints. Needle electromyogram and motor-nerve conduction velocity findings were normal in most of the patients and sensory potentials were absent in all. Nerve biopsy showed severe loss of the large myelinated fibers. Nine patients had a serum monoclonal or polyclonal gammopathy (3 with IgM kappa, 1 with IgA kappa, and 5 with a polyclonal increase of IgG, IgA, or IgM), and 8 had elevated cerebrospinal fluid gamma globulin levels in spite of low normal total cerebrospinal fluid protein levels. No circulating antibodies to ganglionic neurons were found. Therapy with immunosuppressants or plasmapheresis was unsuccessful. All patients are disabled and their conditions have continued to worsen without signs of malignancy or systemic illness during a mean follow-up period of 17.4 years. Chronic idiopathic ataxic neuropathy is a proprioceptive neuropathy, clinically indistinguishable from the one associated with carcinoma or pyridoxine abuse due to involvement of the dorsal root ganglia, and could represent a distinct form of an indolent, slowly progressive sensory neuronopathy (ganglionopathy). Although immunopathological mechanisms may play a role, especially in patients with an associated paraproteinemia, the resistance of such patients to therapy, the progressive course, and the resemblance of this disorder to other toxic neuronopathies associated with pyridoxine abuse or doxorubicin administration suggest a possible toxic etiopathogenesis.
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PMID:Chronic idiopathic ataxic neuropathy. 301 95

Low-grade non-Hodgkin B-cell lymphoma was found during the evaluation of 3 aged patients with predominantly sensory neuropathy of mild to moderate severity. Presenting manifestations were sensory ataxia and right ulnar mononeuropathy in a 75-year-old man, and painful dysesthesias of the legs in two 78-year-old women. A neurophysiological study showed mainly axonopathic alterations. M-protein was present in all cases (Ig-kappa in two, triclonal gammopathy IgG(kappa)/IgM(kappa)/IgM-gamma in one). The male patient had IgM antisulfatide antibody in high titer, whereas the other 2 patients had cryoglobulinemia (type II and type III, respectively). Our report emphasizes the occurrence of mild polyneuropathy as presenting manifestation of low-grade non-Hodgkin lymphoma, different from the clinicopathological entity of neurolymphomatosis, in which severe nerve damage occurs in association with manifest lymphoma, related to nerve infiltration by lymphomatous cells. Alternative pathogenetic mechanisms, such as antibody-mediated nerve damage, or vasa nervorum changes caused by cryoglobulin, may be implicated in our cases. Non-Hodgkin lymphoma should be considered in the diagnostic evaluation of polyneuropathy of unknown cause, especially in patients with paraproteinemia and/or cryoglobulinemia.
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PMID:Low-grade non-Hodgkin B-cell lymphoma presenting as sensory neuropathy. 873 42

We report a 56-year-old female with chronic progressive sensory ataxic neuropathy presenting with alternating skew deviation on lateral gaze in the clinical course. She initially developed dysesthesias in the hands and feet asymmetrically, then gait disturbance developed over several months, and she was admitted to our hospital. Neurological examinations revealed profound deep sensory loss and mild superficial sensory disturbance with the absence of deep tendon reflexes, but muscular strength was completely preserved. EMG showed no evoked response of sensory nerve velocities and normal motor nerves. Sural nerve biopsy showed moderate demyelination with mild infiltration of inflammatory cells, and no vasculitis or onion bulb formation. CSF examination revealed elevation of cell counts and protein with marked intrathecal IgG synthesis and myelin basic protein, but finding of neurosyphillis. Serological examinations did not show any evidence of collagen disease, paraproteinemia, retrovirus infections or Lyme disease. Serum antiganglioside antibodies and anti-Hu antibody were negative. No evidence of malignancy was seen by radiological examinations and assays of tumor markers. In the weeks after admission, gait ataxia progressively worsened, and then she developed alternating skew deviation on lateral gaze, suggesting that the CNS was involved. No responsible lesion was detected on MRI. Corticosteroid administration improved not only the CSF findings, but also the neurologic symptoms, including the alternating skew deviation on lateral gaze. Although the disease entity was not identified, inflammatory demyelinating processes and immune-mediated mechanisms were considered to play important roles.
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PMID:[Inflammatory sensory ataxic neuropathy presenting with alternating skew deviation on lateral gaze: a case report]. 949 Sep 9

Thirty-two patients with a peripheral neuropathy and paraproteinemia were tested for IgM antibodies against myelin-associated protein (MAG) and sulfatide by means of enzyme-linked immunosorbent assay. Nine patients (28 %) had increased anti-sulfatide IgM antibodies and showed a chronic, slowly progressive, distally pronounced, and symmetric polyneuropathy with sensory to sensory-motor impairment, ataxia, hyporeflexia, and axonal involvement in electrophysiological studies. Ten patients (31 %) with increased anti-MAG antibodies had a similar, homogeneous polyneuropathy syndrome but presented with demyelinating features. A weak cross-reactivity between anti-MAG and anti-sulfatide antibodies was present in only three patients. In conclusion, although the two neuropathy groups clearly differed in their electrophysiological features, their clinical presentation was rather similar.
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PMID:Polyneuropathy attributes: a comparison between patients with anti-MAG and anti-sulfatide antibodies. 1112 31

Paraneoplastic neurological syndromes (PNSs) are the remote effects of cancer on the nervous system. The peripheral nervous system is an important targets of PNS. The neuropathies associated with PNS are reviewed in this article. Among the various paraneoplastic neuropathies, the main classical syndorome of PNS is subacute sensory neuronopathy that involves the cell bodies of sensory neurons in the dorsal root ganglia. Its clinical symptoms include sensory ataxia. Onconeuronal antibodies such as anti-Hu and anti-CV2/CRMP5 antibodies are frequently associated with this syndrome. In contrast to this classical form of PNS, non-classical syndromes are considered as heterogeneous neuropathies. The clinical features of non-classical syndromes are variable and no evident association between a clinical phenotype and onconeuronal antibodies has been established. Early detection and treatment of cancer is an essential for management of PNS. Neuropathies with paraproteinemia are also important clinical entities of PNS. IgM M-protein is most likely to cause neuropathy. Patients with IgM paraproteinemic neuropathy is usually characterized by predominan distal and sensory impairment, prolonged distal motor latencies in nerve conduction studies, and the presence of anti-MAG and SGPG antibodies.
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PMID:[Neuropathy associated with paraneoplastic neurological syndrome]. 2042 Jan 79

We report a case of IgM paraproteinemic neuropathy associated with anti-sulfated glucuronic paragloboside (SGPG) IgG antibody. An 84-year old man complained of numbness on the left side of the face and in the distal portions of the limbs. Neurological examination showed mild sensory ataxia. The laboratory tests revealed the presence of IgM lambda paraproteinemia and anti-SGPG IgG antibody without anti-myelin-associated glycoprotein (MAG) activity and anti-MAG/SGPG IgM antibody. Results of nerve conduction study showed decreased sensory nerve action potential (SNAP) amplitude, indicating the presence of sensory-dominant axonal polyneuropathy, and the prolongation of distal latency was not observed. Treatment with corticosteroids resulted in a rapid improvement in neurological abnormalities. In IgM paraproteinemic neuropathy associated with anti-MAG/SGPG antibody, distal acquired demyelinating sensory neuropathy and resistance to immunological treatments are the characteristic pathologic and clinical features, respectively. On the other hand our rare case of IgM paraproteinemic neuropathy positive for anti-SGPG IgG antibody presented with axonal sensory polyneuropathy and a good responsiveness to corticosteroids.
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PMID:[A case of IgM paraproteinemic neuropathy associated with anti-sulfated glucuronic paragloboside (SGPG) IgG antibody without anti-myelin-associated glycoprotein (MAG) activity]. 2422 62