scholarly journals Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

1990 ◽  
Vol 86 (5) ◽  
pp. 1752-1756 ◽  
Author(s):  
A M Wang ◽  
D Schindler ◽  
R Desnick
Keyword(s):  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Schindler Disease

scholarly journals The Natural History of Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Fadie D Altuame ◽  
Gretchen Foskett ◽  
Paldeep Atwal ◽  
Sarah Endemann ◽  
Mark Midei ◽  
...  
Keyword(s):  
Natural History ◽  
Neurodegenerative Disorder ◽  
Gastrointestinal Disease ◽  
Cerebellar Atrophy ◽  
Neuroaxonal Dystrophy ◽  
Fine Motor ◽  
Speech Impairment ◽  
Infantile Neuroaxonal Dystrophy ◽  
Significant Difference ◽  
History Of

Abstract Background: Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium‐independent phospholipase A2. Objective: We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and molecular findings. Materials and Methods: We comprehensively analyzed the charts of 28 patients: 16 patients from Riyadh, Saudi Arabia, 8 patients from North and South America and 4 patients from Europe with a molecularly confirmed diagnosis of PLA2G6‐associated neurodegeneration (PLAN) and a clinical history consistent with INAD.Results: In our cohort, speech impairment and loss of gross motor milestones were the earliest signs of the disease. As the disease progressed, loss of fine motor milestones and bulbar dysfunction were observed. Temporo-frontal function was among the last of the milestones to be lost. Appendicular spastic hypertonia, axial hypotonia, and hyperreflexia were common neurological findings. Other common clinical findings include nystagmus (60.7%), seizures (42.9%), gastrointestinal disease (42.9%), skeletal deformities (35.7%), and strabismus (28.6%). Cerebellar atrophy and elevations in serum AST and LDH levels were consistent features of INAD. There was a statistically significant difference when comparing patients with non-sense/truncating variants compared with missense/in-frame deletions in the time of initial concern (p = 0.04), initial loss of language (p = 0.001), initial loss of fine motor skills (p = 0.009), and initial loss of bulbar skills (p = 0.007).Conclusion: INAD is an ultra-rare neurodegenerative disorder that presents in early childhood, with a relentlessly progressive clinical course. Knowledge of the natural history of INAD may serve as a resource for healthcare providers to develop a targeted care plan and may facilitate the design of clinical trials to treat this disease.

Infantile Neuroaxonal Dystrophy or Seitelberger’s Disease

1971 ◽  
pp. 30-39 ◽  
Author(s):  
Magdeleine Berard-Badier ◽  
Danielle Gambarelli ◽  
Nicole Pinsard ◽  
Jacques Hassoun ◽  
Maurice Toga
Keyword(s):  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Seitelberger's Disease

Seitelberger’s Infantile Neuroaxonal Dystrophy

1973 ◽  
Vol 9 (6) ◽  
pp. 321-332 ◽  
Author(s):  
Nicola Rizzuto ◽  
Mara Vio ◽  
Loretta Ghersini ◽  
F. Panizzon
Keyword(s):  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy

scholarly journals Fetal neuroaxonal dystrophy: a new etiology of fetal akinesia

2018 ◽  
Vol 45 (S1) ◽  
pp. S3-S4
Author(s):  
C. Fallet-Bianco ◽  
B. Hargitai ◽  
P. Bonasoni ◽  
F. Guimiot ◽  
M.T. Yacoubi
Keyword(s):  
Pregnancy Termination ◽  
Age Groups ◽  
Molecular Study ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Term Neonates ◽  
Axonal Spheroids ◽  
Phenotypic Spectrum ◽  
Associated Malformations ◽  
Cns Malformations

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities in these disorders. We report neuropathological data of a new form of NAD, characterized by a precocious prenatal onset, different from classical and connatal Infantile Neuroaxonal Dystrophy (INAD).We studied 5 fetuses examined after pregnancy termination and 2 term neonates deceased just after birth, 4/7 from consanguineous parents. All subjects presented severe fetal akinesia sequence with microcephaly. In 4/7 cases, a molecular study was performed. In all cases, “spheroids” with typical immunohistochemical features were identified, with variable spreading in the central and peripheral nervous system. Basal ganglia, brainstem, cerebellum and spinal cord involvement was constant. Associated CNS malformations, unusual in INAD, were associated including hydrocephalus (2), callosal agenesis/hypoplasia (2), olfactory agenesis (1), cortical (3) and retinal (1) anomalies. None cases demonstrated mutations in PLA2G6, found in INAD.The clinical and neuropathological features of these fetal cases are different from those of “classical” INAD. The absence of mutations of PLA2G6, in addition, suggests that the fetal NAD is a new entity, distinct from INAD, with different molecular basis. Associated malformations suggest a wide phenotypic spectrum and probable genetic heterogeneity. Finally, fetal NAD is an additional etiology of fetal akinesia.

Rare health conditions 31: infantile neuroaxonal dystrophy, progressive hemifacial atrophy, acquired prosopagnosia; and offering emotional and psychological support

2020 ◽  
Vol 14 (1) ◽  
pp. 15-19
Author(s):  
Chris Barber
Keyword(s):  
Psychological Needs ◽  
Psychological Support ◽  
Neuroaxonal Dystrophy ◽  
Health Conditions ◽  
Infantile Neuroaxonal Dystrophy ◽  
Hemifacial Atrophy ◽  
Progressive Hemifacial Atrophy

The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many HCAs and nurses will encounter some of these conditions, given the high number of them. This 31st article will explore three of these conditions, as well as offering a brief discussion on meeting the emotional and psychological needs of the person.

Sign in / Sign up

Export Citation Format

Share Document