La dyssynergie cérébelleuse myoclonique (R. Hunt): Affection autonome ou variante du type dégénératif de l'épilepsie-myoclonie progressive (Unverricht-Lundborg)

Barsy, Thierry de; Myle, G; Troch, C; Matthys, Romano; Martin, J J

doi:10.1016/0022-510x(69)90045-8

Cited by 15 publications

(4 citation statements)

References 6 publications

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“…However, they have not been found in patients as young as this, and are unusual to be found independent of other senile changes. Degeneration of other brain stem structures, such as the red nucleus, substantia nigra, and inferior olives (as seen in our case), has been reported in other patients (Curcio and Pedace, 1955;Christophe and Gruner, 1956;Yokoi et al, 1965;de Barsy et al, 1968;Haltia et al, 1969).…”

supporting

confidence: 84%

“…A less likely possibility is that this disease is an autosomal dominant disorder with highly variable expressivity. Other reports of the Ramsay Hunt syndrome have included family pedigrees consistent with both autosomal recessive (Christophe and Gruner, 1956;Noad and Lance, 1960;Skre and Loken, 1970) and dominant inheritance (Franceschetti et al, 1954;Kreindler et al, 1959;de Barsy et al, 1968;Ziegler et al, 1974), reflecting the heterogeneity of this syndrome.…”

Section: T D Bird and C M Shawmentioning

confidence: 99%

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Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Bird¹,

Shaw²

1978

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Ramsay Hunt's progressive myoclonus and epilepsy associated with dentatorubral degeneration is a rare disorder. We report a 19 year old woman with this clinical syndrome wlho also has a more mildly affected brother. Neuropathological examination of the young woman showed spinocerebellar and cerebral cortical degeneration in addition to dentatorubral involvement. The evidence suggests that this is a distinctive hereditary disorder producing neuronal degeneration at several levels in the central nervous system.Progressive myoclonic cerebellar dyssynergia with epilepsy is an uncommon clinical syndrome with multiple causes. Harriman and Millar (1955) divide progressive familial myoclonic epilepsy into three categories. The first is a relatively uniform group associated with intracellular inclusions (Lafora bodies), and the second is associated with various cerebral lipidoses. The third category is a heterogeneous group of nonspecific degenerative diseases which include dyssynergia cerebellaris myoclonica of Ramsay Hunt. This syndrome has also been called dentatorubral degeneration based on the postmortem findings of the case reported by Hunt (1921). Subsequent reports of Ramsay Hunt's dentatorubral degeneration with pathological confirmation are scarce. We have evaluated a patient who seems to belong to this variety of progressive myoclonic epilepsy. The rarity and unusual nature of the syndrome justify documentation of the clinical and pathological details of this patient. In addition, other members of her family have possibly associated neurological findings which will also be described. Clinical summaryThe patient had a normal birth and development, and was an average student. At age 15 years she developed an awkward gait, clumsy hand coordination, and deteriorating school work. She soon developed nocturnal seizure activity, and an EEG revealed irregular runs of 4-5 Hz moderate voltage activity over the occipital areas, with bilateral spike discharges in these same regions. She was placed on anticonvulsant drugs and six months later began to complain of dull frontal headache.Neurological examination at this time showed marked horizontal nystagmus on lateral gaze to either side, dysarthria, slight dysmetria on fingerto-nose and heel-to-shin testing, poor rapid alternating movements with the left hand, ataxic gait, and a fine tremor of the head and hands. Deep tendon reflexes were normal and plantar responses were downgoing. Unusually high arched feet were noted.Cerebrospinal fluid contained 11.2 g/l protein, 3.3 mmol/l (60 mg/dl) sugar, one mononuclear cell per mm3, and negative VDRL. Skull radiographs, pneumoencephalogram, and brain scan were normal. She was treated with a combination of mephobarbitone, diphenylhydantoin, and ethosuximide.Three months later deep tendon reflexes were 140

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supporting

confidence: 84%

Section: T D Bird and C M Shawmentioning

confidence: 99%

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Bird¹,

Shaw²

1978

Journal of Neurology, Neurosurgery & Psychiatry

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“…Most later reports stressed the association of Friedreich's ataxia and myoclonus (30,31); some authors (32,33) stressed dominant inheritance, others dementia (34), deafness (35,36) or other neurologic deficits (36,37). Moreover, the pathologic verifications have been scarce and have yielded heterogeneous results: De Barsy et a1 (38), for instance, have found 2 distinct neuropathologic patterns among patients classified as RHS. The eponym RHS has thus been used to cover a variety of clinical and pathologic facts, and a variety of etiologies have been proposed over the years: spinocerebellar degeneration (39,40), hereditary dentato-rubro-pallidoluysian atrophy (39), coeliac disease (40), mitochondrial encephalomyopathy (20,21) as well as "degeneration" in BM (2).…”

Section: Conclusion and Nosologymentioning

confidence: 99%

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus

Genton¹,

Michelucci

Tassinari

et al. 2009

Acta Neurologica Scandinavica

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Among progressive myoclonus epilepsies (PME), the nosography of the Ramsay Hunt syndrome (RHS) has been much debated. The authors report on a homogeneous group of 43 patients originating from around the western Mediterranean, with a large number of northern African subjects, who were followed up for a mean period of 11.6 years. Onset is between 6 and 17 years (mean: 11.2) and the transmission appears to be recessive. The clinical features include: action myoclonus, generalized epileptic seizures, mild cerebellar signs and lack of dementia. EEG features include normal background activity, spontaneous fast generalized spike‐wave discharges, photosensitivity, lack of activation during nREM sleep and vertex/rolandic spikes during REM sleep. The prognosis is variable, even within families, but the progression seems to be slow in a majority of patients. This condition can be distinguished from mitochondrial encephalomyopathy and is less severe than Baltic myoclonus. The authors propose that this form of PME, formerly reported as RHS, be more properly described as Mediterranean myoclonus.

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“…or dentatorubropallidoluysian atrophy (DRPLA). [8][9][10][11] We describe the case of a patient clinically diagnosed as having DCM, with unusual neuropathologic features.…”

Section: Introductionmentioning

confidence: 99%

Progressive myoclonus epilepsy with unusual neuropathologic features

et al. 1995

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An autopsy case of progressive myoclonic epilepsy (PME) with unusual neuropathologic features is discussed. The patient was a 46 year old man who presented with prominent cerebellar ataxia and an intention tremor, in addition to myoclonic movements and grand ma1 seizures. He was clinically diagnosed as having PME, in particular dyssynergia cerebellaris myoclonica (DCM; Ramsay Hunt syndrome). A neuropathologic examination revealed severe degeneration of the cerebellar cortex, mild nerve cell loss with marked fibrillary gliosis of the dentate nucleus, and focal laminar necrosis and mild diffuse nerve cell loss in the frontal cortex. Other recent clinicopathologic studies have revealed that most patients with Ramsay Hunt syndrome are diagnosed pathologically as having either mitochondrial encephalomyopathy, especially myoclonus epilepsy with ragged red fiber (MERRF), or dentatorubral or dentatorubropallidoluysian atrophy (DRPLA). The present case is thought to be unusual in that no pathologic features of MERRF or DRPLA were demonstrated.

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La dyssynergie cérébelleuse myoclonique (R. Hunt): Affection autonome ou variante du type dégénératif de l'épilepsie-myoclonie progressive (Unverricht-Lundborg)

Cited by 15 publications

References 6 publications

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus

Progressive myoclonus epilepsy with unusual neuropathologic features

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