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Neuronal Intranuclear Inclusion Disease


Presentation

  • There are very few conditions that present with dopa-responsive juvenile parkinsonism.[ncbi.nlm.nih.gov]
Aspiration
  • Following attempted withdrawal of levodopa at age 24 years, he developed severe aspiration pneumonia complicated by cardiorepiratory arrests and he died 6 months later.[ncbi.nlm.nih.gov]
Dysphagia
  • As well as levodopa responsiveness with rapid onset of dyskinesia, clues to the diagnosis of NIID in patients presenting with parkinsonism include the presence of gaze-evoked nystagmus, early onset dysarthria and dysphagia and oculogyric crises.[ncbi.nlm.nih.gov]
  • Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy.[journals.lww.com]
  • […] signs extrapyramidal sings including parkinsonism abnormal ocular movements and oculogyric crises generalized cognitive degeneration and behavioral changes peripheral neuropathy severe muscle atrophy and weakness sensory impairment in the distal limbs dysphagia[radiopaedia.org]
Fecal Incontinence
  • Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension.[ncbi.nlm.nih.gov]
  • incontinence cardiomyopathy: reported but uncommon epilepsy: reported but uncommon The diagnosis can be made using peripheral nerve biopsy (e.g. sural nerve) 1 or myenteric plexus biopsy (e.g. rectal biopsy) 2-3.[radiopaedia.org]
Muscle Spasm
  • Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy.[journals.lww.com]
Miosis
  • In the sporadic NIID cases with onset age from 51 to 76, dementia was the most prominent initial symptom (94.7%) as designated 'dementia dominant group', followed by miosis, ataxia and unconsciousness.[ncbi.nlm.nih.gov]
  • In the sporadic NIID cases, dementia was the most prominent initial symptom, followed by miosis, ataxia and unconsciousness. In familial NIID cases, we observed two groups of NIID cases “limb weakness dominant group” and “dementia dominant group”.[sasappa.co.jp]
Oculogyric Spasm
  • A pair of female identical twins exhibited slurred speech, nystagmus, and oculogyral spasms starting at age 11.[ncbi.nlm.nih.gov]
Anger
  • This case also showed writhing movements of the head, trunk, and limbs, as well as repetitive outbursts of anger. Postmortem examination revealed severe neuronal loss in the caudate and putamen but not in the substantia nigra or globus pallidus.[karger.com]
Limb Weakness
  • In most cases, the disease begins in childhood. [1] Symptoms of NIID worsen over time and may include dementia, limb weakness, cerebellar ataxia, dystonia, parkinsonism, seizures, and autonomic dysfunction.[rarediseases.info.nih.gov]
Nystagmus
  • A pair of female identical twins exhibited slurred speech, nystagmus, and oculogyral spasms starting at age 11.[ncbi.nlm.nih.gov]
  • […] of NIID are typically widespread, involving central, peripheral, and autonomic nervous systems, leading to the impression of multisystem degeneration. 1 These features include parkinsonism, cerebellar ataxia, chorea, dystonia, gaze-evoked horizontal nystagmus[n.neurology.org]
  • Chorea - Involuntary muscle contractions and movements Dystonia - Involuntary muscle contractions and movements (for more information on how dystonia and chorea differ visit the We Move Web site at: ) Nystagmus - Uncontrolled eye movements Seizures Intellectual[rarediseases.info.nih.gov]
Dysarthria
  • Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years.[ncbi.nlm.nih.gov]
  • Beginning at 11 years of age, this patient had experienced diffuse muscle spasms, dysarthria, dysphagia, tremors, ataxia, oculogyric crises, progressive muscle weakness, and atrophy.[journals.lww.com]
Ocular Dysmetria
  • We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1.[ncbi.nlm.nih.gov]
Hyperreflexia
  • We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1.[ncbi.nlm.nih.gov]

Treatment

  • Patient 1 and 2 received symptomatic treatment. Up until now, the patients are alive but the disease is progressing.[ncbi.nlm.nih.gov]
  • However, specific genes known to cause NIID have not yet been found. [1] Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life. [3] While the disease is ultimately[rarediseases.info.nih.gov]

Prognosis

  • Treatment and prognosis Neuronal intranuclear hyaline inclusion disease (NIHID) is slowly progressive and has no proven therapy. Death usually occurs before the age of 30 years 3.[radiopaedia.org]
  • Neuronal intranuclear inclusion disease (NIID) is a progressive disease (worsens over time) and long term prognosis is poor. Still, the course of NIID may vary from person to person.[rarediseases.info.nih.gov]
  • Pick disease occurs in a younger age group than dementia of the Alzheimer type, with peak incidence occurring in individuals aged 55-65 years. [12, 13] Prognosis Like most dementias, Pick disease is slowly progressive, leading to increased vocational[emedicine.medscape.com]

Etiology

  • Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Uncertain Biochemical Etiology Alternate IDs GM18073 [NEURONAL INTRANUCLEAR INCLUSION DISEASE] Biopsy Source Peripheral vein Cell Type B-Lymphocyte Tissue[catalog.coriell.org]

Epidemiology

  • Dynamic, molecular and epidemiological neuropathology. Profile Our group plays an important role interfacing the clinical and basic research in the Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology (TMGHIG).[tmig.or.jp]
  • Epidemiology Occurrence in the United States Frontotemporal dementias as a group are the fourth most common cause of dementia.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Get a quick and memorable overview of anatomy, pathophysiology, and clinical presentation from the precision and beauty of Netter and Netter-style plates that highlight key neuroanatomical and neurologic concepts.[books.google.com]
  • The pathophysiology of PD has not been fully elucidated, but it has been hypothesized that the pacemaker of resting tremor exists in the basal ganglia-thalamocortical circuits [ 7, 8 ].[karger.com]
  • Pathophysiology of chaperone-mediated autophagy. Int. J. Biochem. Cell Biol. 36, 2420–2434 (2004). 34 Kiffin, R., Christian, C., Knecht, E. & Cuervo, A. M. Activation of chaperone-mediated autophagy during oxidative stress. Mol. Biol.[nature.com]

Prevention

  • There have not effective medication and prevention for NIID. Patient 1 and 2 received symptomatic treatment. Up until now, the patients are alive but the disease is progressing.[ncbi.nlm.nih.gov]
  • This aspect of toxicity is important because it will shape how we develop therapeutics to alleviate or prevent these disorders.[depts.washington.edu]
  • Nakamura Y, Nakajima H, Unoda K, Kimura F, Arawaka S: Cilostazol prevents pneumonia in acute cerebral infarction.[osaka-med.ac.jp]

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