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Your search for all content returned 92 results

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  • A Zebra Can Change Its Stripes: A Case of Inherited AtaxiaGo to chapter: A Zebra Can Change Its Stripes: A Case of Inherited Ataxia

    A Zebra Can Change Its Stripes: A Case of Inherited Ataxia

    Chapter

    This chapter discusses case of a 61-year-old woman who came to improve her quality of life. Her speech was understandable, although she had developed dysarthria and dysphagia. Previous medical history included arthritis and bilateral sensorineural hearing loss since childhood. On examination, she was cognitively intact. There are dysmetric saccades, occasional facial myokymia, mild dysarthria, and an impaired vestibulo-ocular reflex. In regard to her diagnosis, she had been tested for treatable causes of ataxia and for genetic etiologies given her positive family history. Treatable causes of ataxia include paraneoplastic syndromes, toxins, Wilson’s disease, and numerous immune-mediated syndromes, including anti-GAD and antigliadin antibodies. Her myoclonus, sensorineural hearing loss, and family history of hearing loss all directed us toward testing for mitochondrial disorders, specifically mitochondrial epilepsy with ragged red fibers (MERRF). Patients with MERRF typically present with myoclonus and subsequently develop ataxia, myopathy, and generalized seizures.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • Too Young for Parkinson’s Disease? Levodopa-Responsive Parkinsonism in an 8-Year-Old BoyGo to chapter: Too Young for Parkinson’s Disease? Levodopa-Responsive Parkinsonism in an 8-Year-Old Boy

    Too Young for Parkinson’s Disease? Levodopa-Responsive Parkinsonism in an 8-Year-Old Boy

    Chapter

    This chapter discusses the case of an 8-year-old boy with a slowly progressive change in his mood, followed by the insidious development of masked facies, generalized slowness of movement, gait difficulties, dysarthria, hypophonia, and drooling. Family history was negative for movement disorders or other neurological conditions. A clinical diagnosis of “juvenile-onset parkinsonism” was made, with several possible etiologies in minds: dopa-responsive dystonia (DRD), autosomal recessive juvenile onset Parkinson’s disease, and Kufor-Rakeb’s disease. A few weeks after the introduction of levodopa/carbidopa up to 400 mg/d, there was dramatic improvement with an almost complete disappearance of the symptomatology. His condition rapidly deteriorated, with marked motor impairment and cognitive deterioration, until he finally developed a severe deglutition disorder, causing aspiration pneumonia, which led to his death in a few weeks. Parkinsonism has rarely been reported, and no instance of levodopa-responsive parkinsonism with motor fluctuations and dyskinesias has been published in the literature.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • Atypical Parkinsonism With a Twist: My Memorable Case of an Indian Woman With Levodopa-Responsive Parkinsonism and Motor FluctuationsGo to chapter: Atypical Parkinsonism With a Twist: My Memorable Case of an Indian Woman With Levodopa-Responsive Parkinsonism and Motor Fluctuations

    Atypical Parkinsonism With a Twist: My Memorable Case of an Indian Woman With Levodopa-Responsive Parkinsonism and Motor Fluctuations

    Chapter

    This chapter discusses a case of a woman who was from the Indian subcontinent presented at age 39 in 1986 with involuntary cramping and curling of the left foot and toes and gait difficulty and she noticed micrographia. In addition to the Carbidopa/levodopa, she took Trihexyphenidyl 2 mg three times daily and Alprazolam 0.25 mg three times daily. The patient presented with an atypical parkinsonism with visual deterioration and progressive ataxia but without prominent autonomic insufficiency. Parkinson’s disease (PD) and parkinsonism are diagnosed clinically. Because the family history was positive only for vision loss and neuropathy, the hereditary aspect of the parkinsonism was not appreciated, and the patient carried the clinical diagnosis of olivopontocerebellar degeneration or the cerebellar subtype of multiple system atrophy for many years. Once the family history of gait disorder was unveiled, appropriate testing was performed, confirming the diagnosis of spinocerebellar ataxia type 3 (SCA3).

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • How a Wife’s Insomnia Led to Her Husband’s Parkinson Diagnosis: The First Warning From rem Sleep Behavior DisorderGo to chapter: How a Wife’s Insomnia Led to Her Husband’s Parkinson Diagnosis: The First Warning From rem Sleep Behavior Disorder

    How a Wife’s Insomnia Led to Her Husband’s Parkinson Diagnosis: The First Warning From rem Sleep Behavior Disorder

    Chapter

    This chapter discusses the case of J. F, an 80-year-old right-handed white man, who had progressive excessive diurnal sleepiness (EDS). He had a history of prostatectomy, hypertension, and nocturia. He meets criteria for “mild” motor involvement according to the Hoehn and Yahr Staging of Parkinson’s disease (PD). Epworth Sleepiness Scale was 12/24 and polysomnography (PSG) showed increased electromyogram (EMG) phasic and tonic activity during abnormal REM sleep with enacting behavior during the study. Low doses of nocturnal Clonazepam and melatonin reduced the motor manifestations of REM sleep behavior disorder (RBD). Neuropsychiatric symptoms, like vivid dreams, nightmares, and nocturnal hallucinations, or RBD, are commonly observed in PD. numerous cases of RBD have been found in clinically diagnosed PD patients. EDS, RBD, and other premotor manifestations should be recognized in order to attempt to stop or slow down brain degeneration in PD with currently available and future therapies.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • “Psychogenic Tremor” in a 32-Year-Old Factory Worker: The Eyes Do Not Lie!Go to chapter: “Psychogenic Tremor” in a 32-Year-Old Factory Worker: The Eyes Do Not Lie!

    “Psychogenic Tremor” in a 32-Year-Old Factory Worker: The Eyes Do Not Lie!

    Chapter

    This chapter discusses case of a 32-year-old man who was referred for a fourth neurologic opinion, the second by a movement disorder specialist, for tremor and gait disorder. He acknowledged a history of depression. He denied orthostatic light headedness or syncope, and he had no urinary or bowel complaints. Medications at the time of examination included Gabapentin 300 mg twice daily with unclear benefit, Alprazolam 1 mg up to three times daily as needed for tremor, and Escitalopram 20 mg daily. He had difficulty with rhythmic tapping, although repetitive finger movements were fairly normal. His gait seemed to be ataxic: moderately wide based and with decreased tandem. The most common degenerative causes of slow saccades are Huntington’s disease and progressive supranuclear palsy. The combination of slowly progressive ataxia and very slow horizontal saccadic eye movements pointed toward a diagnosis of spinocerebellar ataxias (SCA), possibly type 2.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • Peanut Butter and Lottery: Two Impulse Control Disorders in an Elderly Parkinson PatientGo to chapter: Peanut Butter and Lottery: Two Impulse Control Disorders in an Elderly Parkinson Patient

    Peanut Butter and Lottery: Two Impulse Control Disorders in an Elderly Parkinson Patient

    Chapter

    This chapter discusses the case of an 81-year-old man who had mild tremor and bradykinesia. His past medical history was significant for heavy alcohol abuse and a family history of psychiatric disease. He initially responded well to Levodopa although increasing disability resulted in early retirement. He was admitted in the clinic. On admission, he complained of frequent mood swings and intermittent hallucinations but denied aberrant sexual behavior. His cranial nerves, reflexes, sensory, and cerebellar examinations were unremarkable. Complete blood count (CBC) and blood chemistries were within normal. This is a case of zoophilia in a Parkinson’s disease (PD) patient that appears to have arisen de novo in a setting of increasing dopaminergic medication. This behavior was successfully treated with clozapine. Since a concurrent reduction of medication was not required, the patient was able to maintain adequate antiparkinsonian response.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • Can a Research Subject Be Too Enthusiastic? An Important Lesson on Parkinson Trials From a 65-Year-Old BankerGo to chapter: Can a Research Subject Be Too Enthusiastic? An Important Lesson on Parkinson Trials From a 65-Year-Old Banker

    Can a Research Subject Be Too Enthusiastic? An Important Lesson on Parkinson Trials From a 65-Year-Old Banker

    Chapter

    This chapter discusses the case of a 65-year-old banker with a 7- to 8-year history of Parkinson’s disease (PD) was enthusiastic about participating in a 12-week double-blind study of an adenosine A2A receptor antagonist for PD. At the time, medications included Pramipexole 1 mg five times daily, Carbidopa/Levodopa 1,250 mg divided in nine daily doses, entacapone 200 mg taken with seven of the Carbidopa/Levodopa dosages, and Amantadine 100 mg every morning. Two weeks after switching to the open label study, as allowed per study protocol, he had decreased his Carbidopa/Levodopa dosage to 900 mg, taken only six times daily, along with entacapone 200 mg with each dosage. He was able to continue on the adenosine A2A antagonist for the next 3 years. Once the study was over and the adenosine A sub 2A subreceptor antagonist was discontinued, he almost immediately needed to increase his Levodopa dosage again.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • Stereotypic Movements in a Nurse Referred for the Evaluation of Parkinson’s DiseaseGo to chapter: Stereotypic Movements in a Nurse Referred for the Evaluation of Parkinson’s Disease

    Stereotypic Movements in a Nurse Referred for the Evaluation of Parkinson’s Disease

    Chapter

    This chapter discusses case of a 51-year-old woman who was eventually diagnosed with post-traumatic stress disorder. The patient has continued to struggle with depression and chronic pain over the years and has also been diagnosed with fibromyalgia. In addition, she believes she has taken Haloperidol and Risperidone and other antipsychotic medications. She was evaluated by an outside neurologist and was diagnosed with Parkinson’s disease (PD) and started on Carbidopa/levodopa 25/100 mg twice daily. Her medical history is significant for depression, hypertension, and hypercholesterolemia, which are treated with oral medications. She denies using tobacco, alcohol, or illicit drugs and exposure to toxins or head trauma. She is married without children and employed as an infant care nurse at a local hospital. Cessation of the causative agent can result in rapid improvement in symptoms and is typically the best treatment for drug-induced Parkinsonism (DIP).

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • A Patient With Rapidly Progressive Dementia and Supranuclear Gaze Palsy: A Memorable Lesson on Prion DisordersGo to chapter: A Patient With Rapidly Progressive Dementia and Supranuclear Gaze Palsy: A Memorable Lesson on Prion Disorders

    A Patient With Rapidly Progressive Dementia and Supranuclear Gaze Palsy: A Memorable Lesson on Prion Disorders

    Chapter

    This chapter discusses case of patient was a 71-year-old woman who presented with generalized slowness and apathy. On neurological examination, she had an impassive face, severe apraxia of eyelid opening, slow vertical saccades with a prominent limitation of both upgaze and downgaze, a brisk jaw jerk, and a dysarthria. The patient in her seventies presented with gait difficulties, cognitive problems, falls backward, akinetic-rigid type of parkinsonism, and vertical supranuclear gaze palsy (VSGP), meeting the clinical diagnostic criteria for progressive supranuclear palsy (PSP, Richardson’s syndrome). Immunohistochemistry for prion protein (PRNP) showed accumulation of disease-associated PRNP that was predominantly perivacuolar with coarse deposits in the cerebral cortex. Typically sporadic Creutzfeldt-Jakob disease (sCJD) presents as a rapidly progressive dementia that may be accompanied by ataxia and myoclonus leading to death, usually within 12 months of disease onset.

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside
  • A Lesson on Following One’s Instincts: A Case of a Paraneoplastic Disorder Posing as PSPGo to chapter: A Lesson on Following One’s Instincts: A Case of a Paraneoplastic Disorder Posing as PSP

    A Lesson on Following One’s Instincts: A Case of a Paraneoplastic Disorder Posing as PSP

    Chapter

    This chapter discusses case of a 55-year-old man who had a 22-pack-year history of smoking developed multiple diverse symptoms. On examination, the patient exhibited mild bilateral ptosis and unusual vertical supranuclear gaze palsy (SNGP) in which his eyes would become stuck when deviated upward, so that he was unable to voluntarily bring them down. The acute nature of his symptoms and the peculiar nature of his eye movements closely resembled a progressive supranuclear palsy (PSP) like syndrome resulting from aortic arch surgeries accompanied by hypothermic cardiac arrest. The most common cause of progressive vertical SNGP and parkinsonism is PSP. The belief in the importance of clinical neurology skills emphasizing careful examination and localization skills was reinforced. The symptoms of our patient closely matched the symptoms of other cases with Ma-positive paraneoplastic disorders (PNDs).

    Source:
    Movement Disorders: Movement Disorders Unforgettable Cases and Lessons From the Bedside

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