Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra

Hallervorden, J.; Spatz, H.

doi:10.1007/bf02878455

Cited by 206 publications

(65 citation statements)

References 8 publications

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“…In 1922 Hallervorden and Spatz first described a disease of the basal ganglia which begins in late childhood and follows a relentless progressive course characterized by dementia, scoliosis, torticollis, rigidity, dystonia, and hyperkinesia [2]. Since then, approximately 100 cases of Hallervorden-Spatz disease have been reported and most patients with the condition die before they reach the age of 25 years.…”

Section: Discussionmentioning

confidence: 99%

Clinical features of neuroleptic malignant syndrome in basal ganglia disease

et al. 1993

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SummaryHallervorden-Spatz disease is a rare autosomal recessive disorder in which dopaminergic deficiency in the substantia nigra and its nigrostriatal projection has been identiJied. It is characterised by a slow but progressive course culminating in death. This case report describes a 13-year-old male, with a clinical diagnosis of Hallervorden-Spatz disease, who developed recurrent episodes of an acute illness, the .features of which closely resembled those of the neuroleptic malignant syndrome. However, in this patient there had been no exposure to neuroleptic medication. The clinical events in this case suggest that dopaminergic hypoactivity. which is characteristic of Hallervorden-Spatz disease, can trigger episodes of neuroleptic malignant syndrome. Key wordsComplications; Hallervorden-Spatz disease, basal ganglia disease, neuroleptic malignant syndrome. Although the pathogenesis of the neuroleptic malignantCase history syndrome (NMS) has not yet been completely elucidated, typical NMS episodes are associated with the consumption of antipsychotic drugs which block postsynaptic dopaminergic receptors in the hypothalmic thermoregulatory centre. Hallervorden-Spatz disease, a condition which is characterised by dopaminergic deficiency in the substantia nigra and its nigrostriatal projection, has never been assumed to have any relationship to NMS, and there are no reports of physiological phenomena that would link the two conditions. In this report, we describe our experiences of a patient with Hallervorden-Spatz disease who was subject to episodes of hyperthermia, muscle rigidity and rhabdomyolysis, features which are characteristic of NMS, thus suggesting a common aetiology. A recent case report of NMS following L-dopa withdrawal in a patient with striatonigral degeneration has led to the suggestion that the dopaminergic neurones of the substantia nigra and striatum play a rBle in the thermoregulatory disturbances of NMS [I]. The author postulated that central dopaminergic mechanisms in the striatum rather than the hypothalamus caused the severe muscle rigidity which resulted in peripheral heat production and hyperthermia. In the light of our case, we tentatively suggest that episodes of hyperth-The patient was a 13-year-old boy with mental retardation, who was diagnosed, on both clinical features and chromosomal examination, as having Down's syndrome. His family history was unremarkable. He had been well until the age of 12 years, when he was noticed to have rigidity of the left upper and lower extremities. After gradual progression of the bradykinesia and cogwheel-like rigidity, his ermia should be considered to be a feature of Fig. 1. Brain CT scan: calcification in the nuclei of the basal Hallervorden-Spatz disease.ganglia.

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Section: Discussionmentioning

confidence: 99%

Clinical features of neuroleptic malignant syndrome in basal ganglia disease

et al. 1993

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“…Sykdommen ble kjent da den i 1922 ble beskrevet hos fem søstre i en søskenflokk på 12 av de tyske nevropatologene Julius Hallervorden (1882 -1965) og Hugo Spatz (1888 -1969) (19) (20). Det kliniske forløpet hos en av Hallervordens pasienter (19,21) minner mye om Jensens beskrivelse.…”

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“…Det kliniske forløpet hos en av Hallervordens pasienter (19,21) minner mye om Jensens beskrivelse. På grunn av de to tyske legenes aktive roller og handlinger, bl.a.…”

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«Et høist mærkeligt Sygdomstilfælde hos flere Sødskende» – en norsk førstegangsbeskrivelse fra 1830?

Nylenna¹,

Breivik²,

Heiberg³

et al. 2016

Tidsskriftet

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“…Hunt in 1917 described a case report of juvenile parkinsonism associated with progressive atrophy of globus pallidus 4 . In 1922, Hallervorden and Spatz reported a family with five affected sisters with neuropathological confirmation of lesions of globus pallidus and substantia nigra 5 . Davidson described in 1954, a case series of five patients presenting with progressive parkinsonism, dystonia, and spasticity, associated with pyramidal and pallidal lesions, and created the term pallidopyramidal degeneration (PPD) 6 .…”

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confidence: 99%

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

Salomao

Pedroso

Gama

et al. 2016

Arq. Neuro-Psiquiatr.

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Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

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Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra

Cited by 206 publications

References 8 publications

Clinical features of neuroleptic malignant syndrome in basal ganglia disease

Clinical features of neuroleptic malignant syndrome in basal ganglia disease

«Et høist mærkeligt Sygdomstilfælde hos flere Sødskende» – en norsk førstegangsbeskrivelse fra 1830?

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

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