pantothenate kinase-associated neurodegeneration/ataxia

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Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology.

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Identifikohuni Regjistrohu

Neurodegeneration with brain iron accumulation, type 1 (NBIA 1), or Hallervorden-Spatz syndrome, is a rare neurodegenerative disorder characterized clinically by Parkinsonism, cognitive impairment, pseudobulbar features, as well as cerebellar ataxia, and neuropathologically by neuronal loss,

Progressive ataxia in Swedish children: a re-evaluation study.

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Identifikohuni Regjistrohu

The results of follow-up of 76 children with progressive ataxia first reported in 1988 are described with special reference to type of potential underlying metabolic diseases. In 70% of cases the clinical follow-up did not lead to reconsideration of diagnoses. Six of 23 biochemically and

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration.

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Identifikohuni Regjistrohu

We report a case of a young girl with early onset pantothenate kinase-kssociated neurodegeneration (PKAN) whose initial clinical manifestation was ataxia at the age of 2.5 years. Subsequently the patient presented to us with refractory severe dystonia resulting in essentially complete loss of motor

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

New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases.

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Identifikohuni Regjistrohu

Iron chelation has been introduced as a new therapeutic concept for the treatment of neurodegenerative diseases with features of iron overload. At difference with iron chelators used in systemic diseases, effective chelators for the treatment of neurodegenerative diseases must cross the blood⁻brain

The History of Deferiprone (L1) and the Paradigm of the Complete Treatment of Iron Overload in Thalassaemia.

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Identifikohuni Regjistrohu

Deferiprone (L1) was originally designed, synthesised and screened in vitro and in vivo in 1981 by Kontoghiorghes G. J. following his discovery of the novel alpha-ketohydroxypyridine class of iron chelators (1978-1981), which were intended for clinical use. The journey through the years for the

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.

Neuroacanthocytosis syndromes.

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Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000

Potential Treatment of Retinal Diseases with Iron Chelators.

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Identifikohuni Regjistrohu

Iron is essential for life, while excess iron can be toxic. Iron generates hydroxyl radical, which is the most reactive free radical, causing oxidative stress. Since iron is absorbed through the diet but not excreted from the body, it accumulates with age in tissues, including the retina,

Retinal iron homeostasis in health and disease.

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Identifikohuni Regjistrohu

Iron is essential for life, but excess iron can be toxic. As a potent free radical creator, iron generates hydroxyl radicals leading to significant oxidative stress. Since iron is not excreted from the body, it accumulates with age in tissues, including the retina, predisposing to age-related

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