Results 131 to 140 of about 1,671 (156)

Transcranial sonography in pantothenate kinase-associated neurodegeneration

Journal of Neurology, 2011
After it was reported that increased tissue iron concentrations were associated with increased echogenicity of the substantia nigra (SN) obtained with transcranial sonography (TCS) in animal and postmortem studies, our goal was to use this method in a disorder characterized with iron accumulation in human brain tissue.
Vladimir S, Kostić, Marina, Svetel, Milija, Mijajlović, Aleksandra, Pavlović, Milica, Ječmenica-Lukić, Duško, Kozić, Dušan, Kozić   +6 more
openaire   +2 more sources

Pantothenate kinase associated neurodegeneration (Hallervorden — Spatz syndrome)

The Indian Journal of Pediatrics, 2005
Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration.
Seema, Kapoor, Konstanze, Hortnagel, Siddhartha, Gogia, Ritu, Paul, Vishal, Malhotra, Anjali, Prakash   +5 more
openaire   +3 more sources

HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration

Neurology, 2002
HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). Despite these common features, lipoprotein abnormalities have not been reported in PKAN.
K H L, Ching, S K, Westaway, J, Gitschier, J J, Higgins, S J, Hayflick   +4 more
openaire   +2 more sources

Pantothenate kinase-associated neurodegeneration

Russian neurological journal
The article presents a description of a clinical case of atypical late form of pantothenate kinase-associated neurodegeneration (PKAN) in the terminal stage with debut in the fourth decade of life and rapidly progressive course. The most characteristic signs of the disease in this patient were parkinsonism syndrome, pyramidal symptoms, various ...
L. B. Novikova, A. P. Akopyan, K. M. Ziultsle   +2 more
openaire   +1 more source

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Neurology, 2005
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN,
PELLECCHIA, MARIA TERESA, Valente, E. M., Cif, L., Salvi, S., Albanese, A., Scarano, V., Bonuccelli, U., Bentivoglio, A. R., D'Amico, A., Marelli, C., Di Giorgio, A., Coubes, P., BARONE, Paolo, Dallapiccola, B.   +13 more
openaire   +5 more sources

Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia

Archives of Disease in Childhood, 2008
Pantothenate kinase-associated neurodegeneration is associated with generalised dystonia and cognitive deterioration. Limited evidence suggests that pallidal deep brain stimulation improves physical functioning. This is a report of the assessment and treatment of a severely affected patient in whom pallidal deep brain stimulation improved both physical
C, Isaac, I, Wright, D, Bhattacharyya, P, Baxter, J, Rowe   +4 more
openaire   +2 more sources

Cannabis Use in Children With Pantothenate Kinase–Associated Neurodegeneration

Journal of Child Neurology, 2019
Background: Pantothenate kinase–associated neurodegeneration is characterized by severe, progressive dystonia. This study aims to describe the reported usage of cannabis products among children with pantothenate kinase–associated neurodegeneration ...
Jenny L. Wilson, Allison Gregory, Katrina Wakeman, Alison Freed, Puneet Rai, Colin Roberts, Susan J. Hayflick, Pennylope Hogarth   +7 more
openaire   +2 more sources

Pallidal Stimulation for Dystonia in Pantothenate Kinase-associated Neurodegeneration

Pediatric Neurology, 2007
Patients with generalized dystonia secondary to pantothenate kinase-associated neurodegeneration are traditionally treated palliatively with medical therapy. Therapeutic advances include stereotactic basal ganglia ablative techniques and, more recently, pallidal deep-brain stimulation. We report the course of dystonia in a teenage male.
Donald C, Shields, Nutan, Sharma, John T, Gale, Emad N, Eskandar   +3 more
openaire   +2 more sources

Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome)

European Journal of Paediatric Neurology, 2002
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.
openaire   +2 more sources

Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration

Movement Disorders, 2021
Thomas Klopstock, Suzanne Jackowski, Aleksandar Videnovic   +2 more
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