Familial parkinsonism, apathy, weight loss, and central hypoventilation

Roy, E. P.; Riggs, Jack E.; Martin, J. D.; Ringel, Roey; Gutmann, Ludwig

doi:10.1212/wnl.38.4.637

Cited by 42 publications

(26 citation statements)

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“…The clinical features in the two homozygous members of the Yorkshire family are quite unlike those described in other tauopathy kindreds, although there are clinical similarities to the syndrome of apathy, central hypoventilation, and parkinsonism, [13][14][15] but these are dominantly inherited disorders whose gene locus is unknown. 16 Notably, in both affected individuals, the initial presentation was with acute respiratory failure, and it is likely that the involvement of tegmental medullary neurons, combined with spinal anterior horn cells involvement (data not shown), accounted for this.…”

Section: Discussionmentioning

confidence: 80%

An English kindred with a novel recessive tauopathy and respiratory failure

Nicholl

Greenstone

Clarke

et al. 2003

Annals of Neurology

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We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first description of a pathologically proved young-onset tauopathy with apparent recessive inheritance.

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Section: Discussionmentioning

confidence: 80%

An English kindred with a novel recessive tauopathy and respiratory failure

Nicholl

Greenstone

Clarke

et al. 2003

Annals of Neurology

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“…Weight loss is one of the cardinal signs of PS, however, not always reported in previous cases [10, 13, 16]. Interestingly, some symptoms reminiscent of PSP were observed in the patient IV-2 of Canadian family (e.g.…”

Section: Perry Syndromementioning

confidence: 89%

“…Levodopa is usually ineffective or has only partial effect for the parkinsonism, and if so in the initial stage of the disease. However, occasionally a substantial beneficial effect can be observed [10, 14, 15]; notably, it is worth trying a high dose of carbidopa/levodopa (>2,000 mg of levodopa per day) if the usual dose does not sufficiently benefit the patient. Psychiatric symptoms mainly manifest as apathy or depression.…”

Section: Perry Syndromementioning

confidence: 99%

DCTN1-related neurodegeneration: Perry syndrome and beyond

Konno

Ross

Teive

et al. 2017

Parkinsonism & Related Disorders

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Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150Glued. Dynactin is a motor protein involved in axonal transport; the p150Glued subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought. Progressive supranuclear palsy- and/or frontotemporal dementia-like phenotypes have been associated with the PS phenotypes. In addition, DCTN1 mutations were identified in a family with motor-neuron disease before the discovery in PS. In this review, we analyze the clinical and genetic aspects of DCTN1-related neurodegeneration and discuss its pathogenesis. We also describe three families with PS, Canadian, Polish, and Brazilian. DCTN1 mutation was newly identified in two of them, the Canadian and Polish families. The Canadian family was first described in late 1970’s but was never genetically tested. We recently had the opportunity to evaluate this family and to test the gene status of an affected family member. The Polish family is newly identified and is the first PS family in Poland. Although still rare, DCTN1-related neurodegeneration needs to be considered in a differential diagnosis of parkinsonian disorders, frontotemporal dementia, and motor-neuron diseases, especially if there is family history.

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“…Perry syndrome is an autosomal dominant disorder, with central alveolar hypoventilation as the most critical feature of the syndrome, 60,61 leading to respiratory failure and death several years after symptom onset. Sudden death is a frequent complication of Perry syndrome.…”

Section: Parkinsonism Depression Weight Loss and Central Hypoventimentioning

confidence: 99%