pantothenate kinase-associated neurodegeneration/tremor

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Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.

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Identifikohuni Regjistrohu

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with

Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome).

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Identifikohuni Regjistrohu

We report here an autopsy case of sporadic adult-onset Hallervorden-Spatz syndrome, also known as neurodegeneration with brain iron accumulation type 1 (NBIA1), without hereditary burden. A 49-year-old woman died after a 27-year disease course. At the age of 22, she suffered from akinesia, resting

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.

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Identifikohuni Regjistrohu

Panthothenate kinase-associated neurodegeneration (PKAN) is arare neurodegeneration caused by mutations in the pantothenate kinase (PANK2) gene, which is located on chromosome 20p13. These mutations result in iron accumulation in the brain basal ganglia leading to parkinsonism, dysarthria,

Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease.

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Identifikohuni Regjistrohu

A 38 year old patient with megalencephaly, mental retardation, and lifelong tremor developed levodopa responsive parkinsonism in his mid-30s followed by the appearance of dyskinesiae, motor fluctuations, hallucinations, and dementia. Brain MRI showed, as well as other changes, iron deposition in the

[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

Movement disorders in mitochondrial diseases.

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Identifikohuni Regjistrohu

Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both

[Characteristics of central neurotransmitter metabolism in hereditary extrapyramidal disorders].

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Identifikohuni Regjistrohu

The interrelationships were studied between catecholaminergic and cholinergic systems in 169 patients with extrapyramidal system diseases: 68 patients with torsion dystonia (58 with the rigid form and 10 with the hyperkinetic form), 10 with Hallervorden-Spatz disease, 61 with hepatolenticular

[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

Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders.

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Identifikohuni Regjistrohu

Extrapyramidal movement disorders include hypokinetic rigid and hyperkinetic or mixed forms, most of them originating from dysfunction of the basal ganglia (BG) and their information circuits. The functional anatomy of the BG, the cortico-BG-thalamocortical, and BG-cerebellar circuit connections are

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