Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

Yoganathan, Sangeetha; Arunachal, Gautham; Sudhakar, Sniya; Rajaraman, Venkateswaran; Thomas, Maya; Danda, Sumita

doi:10.1055/s-0035-1571189

Cited by 20 publications

(17 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chorea has been reported in one patient . Bilateral sensory neural hearing loss has also been reported as well as auditory agnosia .…”

Section: Literature Reviewmentioning

confidence: 90%

“…A total of 64 patients were included in the analysis, comprising 55 women (85.9%) and nine men (14.1%) (Tables and ) . Mean age at diagnosis was 27.6 ± 14 years (range 1–52), and mean age at deterioration was 27.2 ± 5.7 (range 13–39).…”

Section: Literature Reviewmentioning

confidence: 99%

“…Other clinical features of BPAN include neuropsychiatric symptoms [18,22,24], "happy demeanor" [7], and excessive drooling [7,25]. Chorea has been reported in one patient [12].…”

Section: Literature Review Demographics and Clinical Spectrum Of Bpanmentioning

confidence: 99%

See 2 more Smart Citations

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Stige

Gjerde

Houge

et al. 2018

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageBeta‐propeller protein‐associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next‐generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

show abstract

“…Chorea has been reported in one patient . Bilateral sensory neural hearing loss has also been reported as well as auditory agnosia .…”

Section: Literature Reviewmentioning

confidence: 90%

Section: Literature Reviewmentioning

confidence: 99%

See 1 more Smart Citation

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Stige

Gjerde

Houge

et al. 2018

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…Response to levodopa has been observed in a few cases . Less common features that may present in childhood or later include sleep abnormalities, autistic features, and optic nerve atrophy …”

Section: How Rare Monogenic Diseases Teach Us About Autophagy In Neurmentioning

confidence: 99%

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Teinert

Behne

Wimmer

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

Autophagy is a fundamental and conserved catabolic pathway that mediates the degradation of macromolecules and organelles in lysosomes. Autophagy is particularly important to postmitotic and metabolically active cells such as neurons. The complex architecture of neurons and their long axons pose additional challenges for efficient recycling of cargo. Not surprisingly autophagy is required for normal central nervous system development and function. Several single‐gene disorders of the autophagy pathway have been discovered in recent years giving rise to a novel group of inborn errors of metabolism referred to as congenital disorders of autophagy. While these disorders are heterogeneous, they share several clinical and molecular characteristics including a prominent and progressive involvement of the central nervous system leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and cognitive decline. On brain magnetic resonance imaging a predominant involvement of the corpus callosum, the corticospinal tracts and the cerebellum are noted. A storage disease phenotype is present in some diseases, underscoring both clinical and molecular overlaps to lysosomal storage diseases. This review provides an update on the clinical, imaging, and genetic spectrum of congenital disorders of autophagy and highlights the importance of this pathway for neurometabolism and childhood‐onset neurological diseases.

show abstract

“…Some response to levodopa has been observed in a few cases. 31 Less common features that may present in childhood or later include sleep abnormalities, 31,34 autistic features, 35,36 and optic nerve atrophy. 37 A diagnosis of BPAN can often be reached based on brain imaging findings: Iron accumulation is detectable on regular T2 sequences in the substantia nigra at an early disease stage, and iron deposition in the globus pallidus is seen on ironsensitive sequences.…”

Section: Wdr45-associated Beta-propeller Protein-associated Neurodegementioning

confidence: 99%

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know

Ebrahimi‐Fakhari

2017

Neuropediatrics

View full text Add to dashboard Cite

Autophagy is a fundamental and conserved intracellular pathway that mediates the degradation of macromolecules and organelles in lysosomes. Proper autophagy function is important for central nervous system development and neuronal function. Over the last 5 years, several single gene disorders of the autophagy pathway have emerged: -associated Vici syndrome,-associated β-propeller protein-associated neurodegeneration, -associated autosomal-recessive spinocerebellar ataxia 20,-associated autosomal-recessive ataxia syndrome, -associated childhood-onset neurodegeneration, and several forms of the hereditary spastic paraplegias. This novel and evolving group of disorders is characterized by prominent central nervous system involvement leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration. Predominant involvement of the long white matter tracts and the cerebellum are anatomic and imaging hallmarks, with common findings that include a thinning of the corpus callosum and cerebellar hypoplasia or atrophy. A storage disease phenotype by clinical or imaging criteria is present in some diseases. Most congenital disorders of autophagy are progressive and over time involve pathology in multiple brain regions. This review provides a detailed clinical, imaging and genetic characterization of congenital disorders of autophagy and highlights the importance of this pathway for childhood-onset neurological diseases.

show abstract

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

Cited by 20 publications

References 10 publications

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know

Contact Info

Product

Resources

About