Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN) - Prospective study

Parkinsonism & Related Disorders
Aleksandra TomićVladimir S Kostić

Abstract

Classic form of pantothenate-kinase-associated neurodegeneration (PKAN), caused by mutation in PANK2 gene, is characterized by early onset, severe neurological impairment and rapid disease progression. In less precisely described form of atypical PKAN, clinical course is associated with late onset, less severe motor impairment and slower disease evolution. The aim of this study was to assess a pattern of disease progression in atypical PKAN, by following development of specific milestones. The clinical characteristics and the disease course of 9 genetically confirmed patients with atypical form of PKAN were evaluated. Time latencies from the disease onset to the appearance of specific clinical milestones were estimated in order to assess the disease progression. Most frequent disease presentation in our patients was characterized with early and prominent oromandibular dystonia (OMD), followed by severe generalized dystonia and early loss of mobility within the first five years of prolonged disease duration (18.7 ± 10.0 years). Eight out of 9 patients reached 7 significant clinical milestones (OMD, generalized dystonia, dysarthria, dysphagia, postural instability, gait difficulties, ADL dependency) in the first 4.6 years of dise...Continue Reading

References

Jan 3, 2003·The New England Journal of Medicine·Susan J HayflickJane Gitschier
Jan 27, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Madhavi ThomasJoseph Jankovic
Dec 6, 2008·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·S SachinM Behari
Oct 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderKailash P Bhatia
Apr 11, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Alfonso FasanoNardo Nardocci
Jun 6, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Maria StamelouKailash P Bhatia

❮ Previous
Next ❯

Citations

Feb 2, 2016·Journal of Movement Disorders·Jae-Hyeok LeeMyung Sik Lee
Jan 5, 2016·Parkinsonism & Related Disorders·Miryam CarecchioBarbara Garavaglia
Apr 2, 2016·Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)·Petr DusekJan Aaseth
Aug 29, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Alejandra DarlingBelén Pérez Dueñas
Jul 14, 2019·Orphanet Journal of Rare Diseases·Randall D MarshallWilliam R Lenderking
Jun 2, 2017·Case Reports in Neurological Medicine·Yiolanda-Panayiota ChristouKleopas A Kleopa
May 19, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Nivedita ThakurHyder A Jinnah

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Botulism (ASM)

Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium clostridium botulinum. Discover the latest research on botulism here.

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Botulism

Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium clostridium botulinum. Discover the latest research on botulism here.