Journal of Movement Disorders

Review Article

Parkinson’s Disease in Sub-Saharan Africa: A Review of Epidemiology, Genetics and Access to Care: Uduak Williams, Oliver Bandmann, Richard Walker; J Mov Disord. 2018;11(2):53-64. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.17028

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A low prevalence of Parkinson’s disease (PD) has been reported in the Sub-Saharan Africa (SSA) region. The genetic causes and clinical features of PD in this region have been poorly described. Very few reports have examined the availability and access to evidence-based quality care for people living with PD in this region. We reviewed all publications focusing on idiopathic PD from SSA published up to May 2016 and observed a prevalence of PD ranging from 7/100,000 in Ethiopia to 67/100,000 in Nigeria. The most recent community-based study reported a mean age at onset of 69.4 years. The infrequent occurrence of mutations in established PD genes was also observed in the region. Treatments were non-existent or at best irregular. Additionally, there is a lack of well-trained medical personnel and multidisciplinary teams in most countries in this region. Drugs for treating PD are either not available or unaffordable. Large-scale genetic and epidemiological studies are therefore needed in SSA to provide further insights into the roles of genetics and other etiological factors in the pathogenesis of PD. The quality of care also requires urgent improvement to meet the basic level of care required by PD patients.

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Original Articles

Ataxia with Vitamin E Deficiency in Norway: Areej Elkamil, Krisztina K. Johansen, Jan Aasly; J Mov Disord. 2015;8(1):33-36. Published online January 31, 2015; DOI: https://doi.org/10.14802/jmd.14030

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Abstract PDF

Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

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Botulinum Toxin Clinic-Based Epidemiologic Survey of Adults with Primary Dystonia in East China: Li Wang, Xingyue Hu, Chunfeng Liu, Yiwen Wu, Changqing Wang, Zhiqiang Wang, Jun Chen; J Mov Disord. 2012;5(1):9-13.; DOI: https://doi.org/10.14802/jmd.12003

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Abstract PDF

Background and Purpose:

Primary focal or segmental dystonia is a rare clinical condition. The clinical features of dystonia have not been evaluated in China. We performed a study to investigate the epidemiology of primary dystonia and its clinical variants in an adult population.

Methods:

A Botulinum Toxin Clinic-based study was conducted in the period 18 May through 8 October 2010 in East China. We identified 523 dystonia patients from the Movement disorders and Botulinum Toxin clinic Cases.

Results:

The most common focal dystonia were blepharospasm (59%), cervical dystonia (35%), limb dystonia (3%), oromandibular dystonia (2%) and laryngeal dystonia (1%). Males with primary dystonia were noted to have earlier age of onset. A female predominance was noted for most of the primary dystonias with a male to female ratio (M : F) ranging from 1 : 1.48 to 1 : 3.

Conclusions:

The epidemiological features of dystonia in East China we collected were similar to the report in Japan which contrasts partly with that reported in Europe.

Citations

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Dystonia: A Leading Neurological Movement Disorder
Md. Tanvir Kabir, Hasina Yasmin, Umme Salma Khanam, Mohd. Raeed Jamiruddin, Md. Sahab Uddin, Mohamed M. Abdel-Daim
Journal of Intellectual Disability - Diagnosis and Treatment.2018; 6(3): 63. CrossRef
Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study
Li Wang, Yin Chen, Beibei Hu, Xingyue Hu
Neurological Sciences.2016; 37(1): 111. CrossRef
Tätigkeitsbezogene primäre fokale Dystonien außerhalb der Musikermedizin und ihre Bedeutung für die Arbeitswelt
F. Sladeczek
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