pantothenate kinase-associated neurodegeneration/dyskinesias

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Familial pediatric rapidly progressive extrapyramidal syndrome: is it Hallervorden-Spatz disease?

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Identifikohuni Regjistrohu

The clinical features of two children of a family with rapidly progressive extrapyramidal-pyramidal-dementia complex have been described. Inheritance seems most likely to be autosomal recessive. Magnetic resonance imaging results of brain were negative. Even so, the authors argued in favor of a

Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).

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Identifikohuni Regjistrohu

The arguments over the nomenclature of the syndrome are reviewed. Ethical considerations favour replacing the present eponyms with the title of panthothenate kinase-associated neurodegeneration (PKAN), now that more is known about the cause of the condition. The symptoms and signs of the syndrome

[A 75-year-old man with parkinsonism and sudden death].

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Identifikohuni Regjistrohu

We report a 75-year-old man with parkinsonism who died suddenly. The patient was well until 64 years of the age when he had an onset of tremor in his left hand. He was treated with a medicine in another hospital, and his tremor subsided. Five years after the onset, he started to note difficulty in

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

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Identifikohuni Regjistrohu

Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on

[Precocious Parkinson's disease associated with "eye-of-the-tiger" type pallidal lesions].

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Identifikohuni Regjistrohu

We report the case of a 56-years-old woman patient, born to unrelated parents, who since 26-years-old gradually developed bradykinesia, rigidity, tremor of both hands, and speech and gait difficulties. Her past history was unremarkable. There was no family history of neurologic disease. She was

Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.

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Identifikohuni Regjistrohu

Extrapyramidal movement disorders comprise hypokinetic-rigid and hyperkinetic or mixed forms, most of them originating from dysfunction of the basal ganglia (BG) and their information circuits that have been briefly reviewed in part 1 of the papers on neuropathology and pathogenesis of

Neuroacanthocytosis in china: a review of published reports.

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Identifikohuni Regjistrohu

BACKGROUND Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated

Clinical features and molecular bases of neuroacanthocytosis.

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Identifikohuni Regjistrohu

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis.

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