Biomedical subjects

Cindy Zadikoff

Publications and source records attributed to Cindy Zadikoff.

4 recordsLinked to original sources

PubMed2006

Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

BACKGROUND: Up to 15% of cases of prion diseases are due to the autosomal dominant inheritance of coding PRNP mutations. OBJECTIVE: To describe the unique clinical and genetic findings in a family of East Indian origin with autosomal dominant inheritance of a novel PRNP mutation. DESIGN: Detailed neurological examination and sequencing analysis of the MAPT and PRNP genes. SETTING: Toronto Western Hospital, Toronto, Ontario. PATIENTS: Five available members of a family of East Indian origin with a rapidly progressive neurodegenerative disorder characterized by dementia, motor decline, and ataxia. RESULTS: We identified a novel Pro105Thr mutation in the PRNP gene in all of the 3 clinically affected family members but not in their unaffected relatives or normal controls. Although 5 of 6 affected family members had a relatively homogeneous phenotype and age at onset (range, 33-41 years), 1 of the 6 patients developed the disease at age 13 years. CONCLUSIONS: A novel mutation in the PRNP gene was identified in all of the available, clinically affected members of this family with a rapidly progressive neurodegenerative disease. To our knowledge, the propositus represents the youngest individual with inherited prion disease described to date.

Adolescent↗

PubMed2006

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.

Adult↗

PubMed2006

Cardiac valvulopathy associated with pergolide use.

OBJECTIVE: To review the risk of pergolide associated cardiac valvulopathy in patients with Parkinson's disease. DATA SOURCES: MEDLINE, Embase, and the Cochrane Library. Reference lists were reviewed and librarians were consulted to identify additional trials. STUDY SELECTION: All studies and case reports in the English literature on pergolide and cardiac valvulopathy. DATA EXTRACTION: Demographics of patients, study duration, dose and duration of pergolide use, echocardiogram results, length of follow-up, and clinical outcome. RESULTS: Twenty-two published articles were identified. There were no randomized controlled trials. Follow-up time varied between a few months and four years. Three case reports and four studies (three case control and one observational) assessed 246 patients. Evidence for valvulopathy was found in all studies. Variable methods were used to assess the degree of valvular regurgitation making comparisons between studies difficult. Little clinical correlation is available for echocardiogram results. Variable improvement was shown in the few patients in whom the drug was stopped. There is insufficient data to determine whether dose and duration or other comorbities have an effect on the risk of developing cardiac valvulopathy. CONCLUSION: Pergolide therapy is associated with an increased risk of developing cardiac valvulopathy but the true incidence and importance of this remains unknown. Further prospective studies are needed with standardized assessments of echocardiograms.

Antiparkinson Agents↗

PubMed2005

Apraxia in movement disorders.

The definition of apraxia specifies that the disturbance of performed skilled movements cannot be explained by the more elemental motor disorders typical of patients with movement disorders. Generally this does not present a significant diagnostic problem when dealing with 'higher-level' praxic disturbances (e.g. ideational apraxia), but it can be a major confound in establishing the presence of limb-kinetic apraxia. Most motor disturbances characteristic of extrapyramidal disorders, particularly bradykinesia and dystonia, will compromise the ability to establish the presence of loss of dexterity and deftness that constitutes this subtype. The term 'apraxia' has also been applied to other motor disturbances, such as 'gait apraxia' and 'apraxia of eyelid opening', that perhaps are misnomers, demonstrating the lack of a coherent nomenclature in this field. Apraxia is a hallmark of corticobasal degeneration (CBD) and historically this has received the most attention among the movement disorders. Corticobasal degeneration is characterized by various forms of apraxia affecting limb function, particularly ideomotor apraxia and limb-kinetic apraxia, although buccofacial and oculomotor apraxia can be present as well. The syndrome of parkinsonism and prominent apraxia, designated the 'corticobasal syndrome' (CBS), may be caused by a variety of other central nervous system pathologies including progressive supranuclear palsy (PSP), Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementias. Distinct from the CBS, PSP and Parkinson's disease can demonstrate varying degrees of apraxia on selected tests, especially in those patients with more severe cognitive dysfunction. Diseases that cause the combination of apraxia and a primary movement disorder most often involve a variety of cerebral cortical sites as well as basal ganglia structures. Clinical-pathological correlates and functional imaging studies are compromised by both this diffuse involvement and the confusion experienced in the clinical evaluation of apraxia in the face of the additional elemental movement disorders. Finally, although apraxia results in clear disability in patients with the CBS, it is not clear how milder ideomotor apraxia found on specific testing contributes to patients' overall day-to-day motor disability.

Alzheimer Disease↗