Clinical and functional correlates of parkinsonism in a population-based sample of individuals aged 75 + : the Pietà study.

BACKGROUND: Parkinsonism is strongly associated with ageing, and many studies have suggested that parkinsonian signs may affect up to half of older adults and is associated with a wide range of adverse health outcomes. We compared clinical and functional characteristics of oldest-old community-dwelling individuals with parkinsonism (parkinsonian group [PG]) to individuals without parkinsonism (non-parkinsonian group [NPG]. METHODS: The Pietà study is a population-based study conducted in Caeté, southeast Brazil, involving 607 individuals aged 75 + years submitted to an extensive clinical evaluation. A subset of 65 PG individuals (61.5% women, median age of 82 years) was compared to 542 NPG individuals (64.8% women, median age of 80 years). RESULTS: PG individuals had significantly more functional impairment, clinical comorbidities (including number of falls, loss of bladder control and dysphagia) and major depression. Multivariate analysis revealed that older age, higher UPDRSm scores, lower category fluency test (animals/minute) and delayed recall memory scores were associated with PG. This group was also more cognitively impaired, with lower performance than NPG individuals in the Mini-Mental State Examination, category fluency test (animals/minute), clock drawing and in delayed recall (p < 0.001 for all tests). UPDRSm scores were the most contributing factor to cognition that independently explained variability in functionality of the entire sample. CONCLUSION: Individuals aged 75 + years with parkinsonism were significantly more clinically and functionally impaired in this population-based sample. Cognitive dysfunction explained most of the loss of functionality in these patients. UPDRS-m scores contributed independently to explain variability in functionality in the whole sample.

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

BACKGROUND: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5. OBJECTIVES: To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation. METHODS: We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1. RESULTS: We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified. CONCLUSIONS: AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society.

A Diagnostic Approach to Spastic ataxia Syndromes.

Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.

Dystonia, Chorea, and Ataxia: Three Challenging Cases.

Movement disorders comprise a heterogeneous and complex group of neurological disorders that increase (hyperkinetic) or decrease (hypokinetic) the speed or amplitude of movements, or disrupt their coordinated sequencing. In this article, we describe three instructive cases, exemplifying classic movement disorders, namely dystonia, chorea, and ataxia. We highlight the diagnostic approach based on clinical clues, syndromic reasoning, evaluation, and management recommendations. Each case ends with key messages for the clinicians.

Painful legs and moving toes.

A 40-year-old woman reported involuntary and irregular movements of her left toes accompanied by pain. This arose following arthroscopy after a sprained left ankle. She had involuntary flexion-extension and abduction and adduction movements of the hallux and the other toes, with reduced pinprick sensation on the skin web between the left hallux and the second toe. Nerve conduction studies confirmed a deep peroneal nerve axonal injury. We diagnosed the syndrome of painful legs and moving toes, provoked by a peripheral nerve injury. Her symptoms have persisted despite pregabalin, gabapentin and amitriptyline.

Huntington's disease-like 2: a phenocopy not to miss.

A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington's disease were negative but were positive for Huntington's disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling.

Perioral and tongue fasciculations in Kennedy's disease.

We report the case of a 54-year-old right-handed man who presented with a 2-year history of progressive upper-limb weakness with mild dysarthria and prominent involuntary perioral abnormal movements that were characterized as fasciculations. Electromyography disclosed motor neuron disease. The diagnosis of Kennedy's disease was established by polymerase chain reaction. Perioral abnormal movements and fasciculations may represent important clinical clues to the diagnosis of Kennedy's disease, particularly when associated with proximal muscle atrophy and gynecomastia. In suspected cases, genetic testing for elevated CAG repeats in the androgen receptor Xq12 gene is warranted.

Case 241: Hemiparkinsonism- Hemiatrophy-SPECT with 99mTc TRODAT-1 and Muscle MR Imaging Abnormalities.

History A 43-year-old right-handed man presented with a history of progressive mild left-sided weakness and slowness of movements. Symptoms began 4 years earlier, and the patient noticed a progressive decline in his daily routine due to gait difficulties in the past year. There was no history of head trauma, surgery, drug therapy, smoking, or alcohol abuse, nor was there any relevant family history. Examination revealed normal cognition (29 of 30 points on the Mini-Mental State Examination and 27 of 30 points on the Montreal Cognitive Assessment) and normal cerebellar, sensory, cranial nerve, and autonomic function. There was mild left-sided weakness involving the upper and lower limbs (medical research council graded muscle strength as 4+ out of 5) that was associated with facial hypomimia and a rigid akinetic syndrome only in the patient's left hemibody (Unified Parkinson's Disease Rating Scale [UPDRS] part III [motor examination], 23 out of 52 points). Mild atrophy in the left upper and lower limbs without pain, swelling, or skin lesions was noted at physical examination. Routine blood chemistry was normal, as were serum creatine kinase and aldolase levels and thyroid, hepatic, and renal function. T1- and T2-weighted, fluid-attenuated inversion recovery, diffusion- and perfusion-weighted, and contrast material-enhanced brain magnetic resonance (MR) imaging results were normal, without basal ganglia hyperintensity, lacunae, calcification, or heavy metal deposits. Muscle MR imaging and single photon emission computed tomography (SPECT) with technetium 99m (99mTc) tropane dopamine transporter (TRODAT)-1 were performed for further evaluation. This patient received levodopa and benserazide (200 and 50 mg, respectively) four times a day and amantadine (100 mg) three times a day without adequate improvement (UPDRS score decreased from 23 to 20 points).

Clonic Perseveration after Acute Ischemic Stroke: An Insight into the Pathophysiological Mechanisms.

Poststroke movement disorders may manifest as parkinsonism, dystonia, chorea, ballism, athetosis, tremor, myoclonus, stereotypies, and akathisia. In this article, we describe a patient with clonic perseveration 2 days after an acute ischemic stroke. We discuss the phenomenology and provide insights on possible pathophysiological mechanisms involved.

Clinicoradiological comparison between vascular parkinsonism and Parkinson's disease.

OBJECTIVE: To compare the clinical and radiological features of vascular parkinsonism (VP) and Parkinson's disease (PD). METHODS: Cross-sectional study where 15 patients with VP (8 (53.3%) men; aged 75.7 ± 10.4 years) and 30 patients with PD (17 (56.7%) men; aged 67.3 ± 7.5 years) underwent motor and cognitive evaluation and brain MRI. RESULTS: Patients with VP were, on average, 8.4 years older (p = 0.004); all had arterial hypertension. They presented with a sudden onset of parkinsonism (80%) and a rapidly progressive clinical course (53.3%). Predominant lower body parkinsonism (p<0.001), postural instability (p=0.003) with freezing of gait (p<0.001) and falls (p<0.001), urinary incontinence (p < 0.001) and pyramidal signs (p<0.001) were more common in patients with VP. Movement Disorders Society's Unified PD Rating Scale (MDS-UPDRS) scores were higher in patients with VP (p=0.005 in 'OFF' state and p<0.001 in 'ON' state). They had greater cognitive impairment and 12 (80%) fulfilled diagnostic criteria for probable vascular dementia. Most patients with VP had brain MRI changes: multiple lacunar infarcts (66.7%) or extensive white matter disease (26.7%). CONCLUSIONS: VP can be clinically distinguished from PD based on sudden onset of parkinsonism at an older age, characterised by lower body predominance, urinary incontinence, pyramidal signs, postural instability with freezing of gait and falls, and dementia.

Cranial hypertrophic pachymeningitis secondary to neurocysticercosis.

We report a case of a 46-year-old Brazilian woman, a farmer, who presented with recently uncontrolled epilepsy, daily headaches and ataxia. Cranial CT revealed hydrocephalus which was treated with ventricular drainage. Brain MRI revealed multiple parenchymal cysts of varying stages of neurocysticercosis. In addition, the patient presented with diffuse dural enhancement consisted with pachymeningitis, which is quite an unusual manifestation of neurocysticercosis.

Multiple myeloma with cauda equina infiltration.

We report a case of a 51-year-old man with multiple myeloma who presented with lumbar pain and left limb paresis. Cerebrospinal fluid, brain and spinal cord resonance imaging revealed a diffuse infiltration of the cauda equina without any cranial leptomeningeal enhancement. An infiltration limited to the cauda equina is extremely rare.