Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old man was admitted with his unsteady gait, difficulty in speech and a paroxysmal severe headache accompanied with sensori-motor disturbance of the right extremities and aphasic symptom. His family history was unremarkable. His unsteadiness has progressed very slowly from childhood. He noted to be inarticulate at the age of 18 years. At the age of 33 years, he suddenly had an attack of severe throbbing headache, which was mainly left parietal, with nausea and photophobia. During the headache, his right extremities were paralyzed and he became aphasic. He had lost a partial memory of the event All these symptoms had gone within 24 hours. Thereafter, the same headache occurred about once a month. Neurological examination revealed a mild truncal ataxia and ataxic dysarthria. Electroencephalography (EEG) showed intermittent delta waves restricted over the left fronto-temporal region. Brain MRI showed a moderate atrophy of superior cerebellar vermis and anterior cerebellar lobe. The diagnosis of sporadic hemiplegic migraine (SHM) with cerebellar ataxia was made. Our case was very similar to familial hemiplegic migraine (FHM) 1, of which some families are accompanied with transient amnesia, cerebellar ataxia and EEG abnormality. Although we did not detect any mutations in CACNA1A gene previously reported in FHM1, our case might share same pathogenesis with FHM1.
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PMID:[Case of sporadic hemiplegic migraine with cerebellar ataxia]. 1959 4

The aim of this study is to describe a case of Lhermitte-Duclos disease (LDD), which is an extremely rare cause of cerebellar ataxia. LDD is an extremely rare type of benign cerebellar mass and usually manifest as features of raised intracranial pressure and cerebellar dysfunction. Patients may remain asymptomatic for many years, and detection of tumor may be by chance on routine magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). A 29-year-old female presented to the outdoor patient department with 18 months history of a headache, which was moderate to severe in intensity, throbbing in nature, localized to the right side of the head, and associated with nausea and photophobia. On examination, she had mild cerebellar dysfunction, and MRI/MRS finding was consistent with LDD. LDD is a rare cause of headache and cerebellar dysfunction in younger age group. Treatment may be individualized, and conservative management with regular follow-up may be a better approach if symptoms are mild and nonprogressive in nature.
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PMID:Lhermitte-Duclos Disease: A Rare Cause of Cerebellar Ataxia. 2911 88

Anti-SOX1 antibodies are associated with diverse neurological syndromes, targeting both the central (paraneoplastic cerebellar degeneration) and peripheral nervous systems (Lambert Eaton myasthenic syndrome, paraneoplastic neuropathy). Although the pathogenic role of these antibodies remains unclear, their strong association with underlying neoplastic disease (mainly small-cell lung cancer) has designated them as onconeural antibodies. Here, we present a case of cerebellar ataxia with marked photophobia, with severe atrophy of the cerebellum and brain stem, associated with anti-SOX1 antibodies without evidence of an underlying malignancy. Although anti-SOX1-associated cerebellar syndrome is infrequent, investigation of these antibodies should be considered as a part of the diagnostic algorithm if more common causes have been ruled out. Extensive brain stem lesions causing disruption of the trigeminal pathway and its connections with the pretectal area might explain the underlying mechanism of the associated photophobia. Early recognition of anti-SOX1 antibodies, exclusion of underlying neoplasm, and prompt initiation of immunotherapy are essential to achieve a better outcome.
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PMID:Cerebellar Ataxia With Extreme Photophobia Associated With Anti-SOX1 Antibodies. 3124 74