Progressive Pontobulbar Palsy With Deafness

Brucher, J. M.

doi:10.1001/archneur.1981.00510030080012

Cited by 21 publications

(6 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As this is the first report of sural nerve pathology in patients with mutations in RFVT2, it remains to be seen if these findings are indeed SLC52A2 -specific. Previous pathological descriptions in patients with Brown-Vialetto-Van Laere syndrome are limited to rare post-mortem studies of genetically undifferentiated cohorts and include findings of neuronal loss and degeneration in lower cranial nerve nuclei (VII–XII), depletion of anterior horn cells and degeneration of spinocerebellar and pyramidal tracts (Brucher et al , 1981). A severe depletion of motor root axons, an absence of large motor neurons and an almost complete loss of fibres in Clarke’s column and the posterior horns of the spinal column have also been reported (Francis et al , 1993), including evidence of these findings in the cervical and upper thoracic levels of the spinal cord with marked sparing of the lumbosacral levels (Rosemberg et al , 1982).…”

Section: Discussionmentioning

confidence: 99%

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Foley

Menezes

Pandraud

et al. 2013

Brain

153

245

View full text Add to dashboard Cite

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin. We identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression, and we report the response to high-dose oral riboflavin therapy in patients with SLC52A2 mutations, including significant and sustained clinical and biochemical improvements in two patients and preliminary clinical response data in 13 patients with associated biochemical improvements in 10 patients. The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition, particularly when initiated soon after the onset of symptoms.

show abstract

Section: Discussionmentioning

confidence: 99%

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Foley

Menezes

Pandraud

et al. 2013

Brain

153

245

View full text Add to dashboard Cite

show abstract

“…18 Rare postmortem reports describe findings of degeneration with neuronal loss and gliosis in lower cranial nerve nuclei (VII-XII), depletion of neurons in anterior horn cells and atrophy of spinocerebellar and spinothalamic tracts, along with an axonal neuropathy in peripheral nerves. 10,18,19 Visual problems and a sensory ataxia seem to be more frequent in patients with RTD 2. In RTD 3, bulbar symptoms tend to occur earlier in the disease course compared to RTD 2.…”

Section: Discussionmentioning

confidence: 97%

Riboflavin transporter deficiency in young adults unmasked by dietary changes

Jaeger,

Langeveld,

Brunkhorst

et al. 2024

JIMD Reports

View full text Add to dashboard Cite

Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually. We report three previously healthy young adults, who developed rapidly progressive neurological symptoms after decreasing dietary intake of meat and dairy. After a diagnostic odyssey, the diagnosis of a riboflavin transporter deficiency was made. Treatment with high dose oral riboflavin (20–40 mg/kg/day) partially reversed symptoms. This case series highlights that reduced riboflavin intake as a result of dietary changes can unmask RTD at a later age. We emphasize the importance of early recognition of this progressive and potentially lethal disease and show that timely treatment with high dose riboflavin is highly effective.

show abstract

“…Mit einer Latenz von Monaten bis mehreren Jahren [12] treten weitere Hirnnervenparesen (v. a. des N. VII, N. X und N. XII, seltener auch des N. XI) hinzu. Selten kann auch eine Optikusatrophie vorliegen (n = 3: [6,11,15]). Atrophe Paresen der Extremitätenmuskulatur wurden bei 14 Patienten beschrieben.…”

unclassified

“…Autopsien wurden bei sechs Patienten im Alter von 2, 12, 17, 18, 25 und 27 Jahren durchgeführt [3, 6,11,12,14]. In allen Fällen wies der N. VIII einen ausgeprägten Axonverlust und eine verminderte Zellzahl im Kerngebiet auf.…”

unclassified

See 1 more Smart Citation

Brown-Vialetto-Van Laere-Syndrom

Urban¹,

Hopf²

2001

Akt Neurol

View full text Add to dashboard Cite

Zusammenfassung: Wir berichten über eine 42-jährige Patientin mit einem Brown-Vialetto-Van Laere-Syndrom, gekennzeichnet durch progressive Bulbärparalyse mit Dysarthrophonie, Zungenatrophie, bilaterale inkomplette periphere Fazialisparese, bilaterale Rekurrensparese, Innenohrschwerhörigkeit, Ateminsuffizienz bei beidseitiger, linksbetonter Zwerchfellparese und atrophen Paresen der distalen Extremitätenmuskulatur.Brown-Vialetto-Van Laere Syndrome: We report on a 42year old woman with Brown-Vialetto-Van Laere syndrome presenting with progressive bulbar paralysis with dysarthria, tongue atrophy, bilateral incomplete facial paresis, bilateral recurrens paresis, and sensorineural hearing loss, respiratory insufficiency due to bilateral diaphragmatic paralysis, and atrophic paresis of distal limb muscles. EinleitungDas Brown-Vialetto-Van Laere-Syndrom ist ein sehr seltenes, bisher in etwa 40 Fällen beschriebenes, distinktes Syndrom, bestehend aus progressiver Bulbärparalyse, Innenohrschwerhörigkeit, respiratorischen Störungen und unterschiedlich stark ausgeprägten atrophen Paresen der Extremitätenmuskulatur. Die Prognose ist sehr unterschiedlich und reicht vom Tod im Kindesalter bis zu einem jahrzehntelangen Verlauf. Die überwiegende Mehrzahl folgt einem autosomal-rezessiven Erbgang mit Auftreten auch sporadischer Fälle. KasuistikDie 42-jährige türkische Patientin stellte sich zunächst in einer pneumologischen Klinik zur Abklärung einer seit mehreren Jahren bestehenden, belastungsabhängig zunehmenden Kurzatmigkeit und Heiserkeit vor. Die Blutgasanalyse ergab eine respiratorische Globalinsuffizienz mit einem pO 2 68 mm Hg, pCO 2 70 mm Hg, pH 7,34, weshalb eine Einstellung auf eine druckkontrollierte, nichtinvasive nächtliche Selbstbeatmung erfolgte. Wir übernahmen die Patientin zur weiteren neurolo-Abb. 4 Atrophe Paresen der Fuûmuskulatur. Abb. 2 Bilaterale Zungenatrophie. Brown-Vialetto-Van Laere-Syndrom Akt Neurol 2001; 28 183 Heruntergeladen von: University of Florida. Urheberrechtlich geschützt.

show abstract

Progressive Pontobulbar Palsy With Deafness

Cited by 21 publications

References 4 publications

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Riboflavin transporter deficiency in young adults unmasked by dietary changes

Brown-Vialetto-Van Laere-Syndrom

Contact Info

Product

Resources

About