Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042571 (vertigo)
 7,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinocerebellar ataxia (SCA) is a group of heterogeneous disorders. In Japan, approximately 60% of SCA consist of sporadic disorders, and the rest mostly consists of a variety of late-onset dominant disorders. In the latter, MJD, SCA6, DRPLA, SCA1 and SCA2 are frequent in this order, and others are rare. All these disorders are caused by unstable expansion of CAG repeat in the coding region of each responsible gene. Among those disorders, SCA6 manifests late-onset pure cerebellar ataxia and frequently associated with positioning vertigo. In other disorders, phenotype variation, clinical severity, and onset of age are known to correlate inversely with the CAG repeat size. Such variation even in a given disorder is often difficult to apply single criteria to diagnose the disorder based on its clinical findings alone. MSA is a major disorder of sporadic SCA. Signs of cerebellar ataxia, parkinsonism, autonomic disturbance are incorporated into current diagnostic criteria. However, cases meeting the criteria of autonomic disturbances are confined to the advanced stage of the illness or rare cases starting with obvious dysautonomia. These problems indicate that the criteria need further adjustment.
 ...
PMID:[Differential diagnosis of spinocerebellar ataxia]. 1278 68

The presence of spontaneous nystagmus in darkness with a strong horizontal component has been taken to indicate that there is asymmetrical function of the horizontal semicircular canals. If this horizontal spontaneous nystagmus can be suppressed by vision, then it is regarded as due to peripheral horizontal canal dysfunction. However, we report evidence from one patient (61-year-old male), who visited the MSA ENT Clinic, Cassino (FR) Italy, reporting acute, severe vertigo, postural unsteadiness, nausea and vomiting associated with right sudden hearing loss. The patient received instrumental audiovestibular testing to obtain objective measurements of his inner-ear receptors. At the time of the attack, the patient showed spontaneous nystagmus, mainly with horizontal and vertical components (3D infrared video-oculography). Video head-impulse tests of dynamic horizontal canal function showed that the functional status of both horizontal canals was within the normal range. Cervical VEMPs to 500 Hz bone-conducted vibration at Fz showed normal results; ocular VEMPs to the same stimulus showed a reduced n10 amplitude beneath the left eye, corresponding to the right ear. For this reason, the patient was diagnosed as having right unilateral selective utricular macula lesion due to labyrinthitis. There is considerable evidence of convergence of neural input from the otoliths onto horizontal canal neurons in the vestibular nuclei. The firing of such neurons could reflect either asymmetrical horizontal canal function or asymmetrical utricular function. The problem with this patient was not due to asymmetrical horizontal canal function, but only to asymmetrical utricular function, demonstrated by the results of the oVEMP test.
 ...
PMID:Does unilateral utricular dysfunction cause horizontal spontaneous nystagmus? 2286 20