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2.
BMC Neurol ; 13: 92, 2013 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-23865558

RESUMO

BACKGROUND: Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established. CASE PRESENTATION: We identified a male patient with progressive external ophthalmoplegia who also developed a progressive bradykinesia, rigidity and camptocormia in the third decade. Parkinsonism was partially responsive to dopaminegic replacement. His father and brother had reportedly similar clinical problems. Genetic analysis identified a novel mutation p.K512M in the POLG1 gene. CONCLUSION: This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.


Assuntos
DNA Polimerase Dirigida por DNA/genética , Mutação/genética , Idoso , DNA Polimerase gama , Humanos , Masculino , Oftalmoplegia Externa Progressiva Crônica/etiologia , Oftalmoplegia Externa Progressiva Crônica/genética , Transtornos Parkinsonianos/complicações
3.
NPJ Parkinsons Dis ; 9(1): 108, 2023 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-37429849

RESUMO

An estimated 90% of people living with Parkinson's disease (PD) in the US are covered by Medicare health insurance. How these beneficiaries use and engage the health care system is important to understand in the face of a rapidly growing PD population. Here, we analyzed health care utilization patterns of those with a PD diagnosis enrolled in Medicare in 2019. By our estimates, PD beneficiaries number 685,116 or 1.2% of the total Medicare population. Compared to the overall Medicare population, 56.3% are male (vs 45.6%), 77.9% over age 70 (vs 57.1%), 14.7% people of color (vs 20.7%), and 16.0% are rural residents (vs 17.5%). Our analysis identified significant disparities in care. Surprisingly, 40% of PD beneficiaries (n = 274,046) did not see a neurologist at all during the calendar year and only 9.1% visited a movement disorder specialist (MDS). Few Medicare beneficiaries diagnosed with PD use recommended services such as physical, occupational, or speech therapy. People of color and rural residents were least likely to access a neurologist or therapy services. Despite 52.9% of beneficiaries being diagnosed with depression, only 1.8% had a clinical psychology visit. Our findings emphasize the need for further research on population-specific barriers to accessing PD-related health care.

4.
JAMA Neurol ; 79(9): 929-936, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35816299

RESUMO

Importance: The Global Burden of Disease study conducted between 1990 and 2016, based on a global study of 195 countries and territories, identified Parkinson disease (PD) as the fastest growing neurological disorder when measured using death and disability. Most people affected by PD live in low- and middle-income countries (LMICs) and experience large inequalities in access to neurological care and essential medicines. This Special Communication describes 6 actions steps that are urgently needed to address global disparities in PD. Observations: The adoption by the 73rd World Health Assembly (WHA) of resolution 73.10 to develop an intersectoral global action plan on epilepsy and other neurological disorders in consultation with member states was the stimulus to coordinate efforts and leverage momentum to advance the agenda of neurological conditions, such as PD. In April 2021, the Brain Health Unit at the World Health Organization convened a multidisciplinary, sex-balanced, international consultation workshop, which identified 6 workable avenues for action within the domains of disease burden; advocacy and awareness; prevention and risk reduction; diagnosis, treatment, and care; caregiver support; and research. Conclusions and Relevance: The dramatic increase of PD cases in many world regions and the potential costs of PD-associated treatment will need to be addressed to prevent possible health service strain. Across the board, governments, multilateral agencies, donors, public health organizations, and health care professionals constitute potential stakeholders who are urged to make this a priority.


Assuntos
Doença de Parkinson , Saúde Global , Humanos , Doença de Parkinson/epidemiologia , Doença de Parkinson/terapia , Pobreza , Saúde Pública , Organização Mundial da Saúde
5.
J Clin Neurosci ; 16(4): 595-7, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19200734

RESUMO

Neurosarcoidosis is an uncommon clinical entity, even in patients with systemic sarcoidosis. Its presentation is widely varied but longitudinally extensive transverse myelitis secondary to neurosarcoidosis has only rarely been described. We report the case of a patient with pulmonary sarcoidosis and congenital immunosuppression who developed longitudinally extensive transverse myelitis secondary to neurosarcoidosis following splenectomy. Diagnosis was based on history, inflammatory changes on MRI, and cerebrospinal fluid findings. Standard therapy with intravenous steroids was unsuccessful. Only more novel treatment with Infliximab allowed improvement.


Assuntos
Doenças do Sistema Nervoso Central/complicações , Mielite Transversa/complicações , Mielite Transversa/patologia , Sarcoidose Pulmonar/complicações , Adulto , Anti-Inflamatórios/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Humanos , Infliximab , Imageamento por Ressonância Magnética/métodos , Masculino , Metilprednisolona/uso terapêutico , Mielite Transversa/tratamento farmacológico
6.
Parkinsonism Relat Disord ; 19(7): 684-6, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23611688

RESUMO

Dystonic tremor (DT) is characterized by coexisting tremor and abnormal dystonic posturing in the same segment. DT is often medically refractory and DBS is an important therapeutic option. However, the optimal surgical target for DT remains uncertain with Vim, GPi and zona incerta previously reported as effective. We retrospectively reviewed the outcome data from all patients with DT involving at least one upper extremity who underwent DBS at Vanderbilt University from July 2006 to July 2010. We evaluated the improvement of tremor and dystonia after their response to DBS was judged to be maximal. Ten patients met the inclusion criteria. Vim was targeted in four patients and three had unilateral procedure and one bilateral Vim DBS. GPi was targeted in four patients with bilateral DBS procedure in every patient from this subgroup. A combined bilateral GPi and unilateral Vim DBS was performed in two patients. The best results for tremor control were observed in patients with Vim DBS but they had persisting mild dystonia. Patients with GPi DBS had average DT improvement by approximately 50% but their dystonia symptoms were markedly improved. We propose that the patients with DT with a mild dystonia should be considered for Vim DBS procedure and the coexistence of severe DT and dystonia may be successfully controlled by combined GPi and Vim DBS surgeries.


Assuntos
Estimulação Encefálica Profunda/métodos , Distúrbios Distônicos/terapia , Globo Pálido/fisiologia , Tremor/terapia , Núcleos Ventrais do Tálamo/fisiologia , Adolescente , Idoso , Distúrbios Distônicos/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tremor/complicações , Adulto Jovem
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