BACKGROUND Neuroaxonal dystrophy (NAD) is a neurodegenerative condition affecting humans and animals characterized by the widespread presence of swollen axons (spheroids). CASE PRESENTATION Herein, we report the pathological findings in a case of neuroaxonal dystrophy in a Dachshund-cross puppy, which was euthanized because of a proprioceptive positioning deficits and irreversible ataxia of t...

Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is...

Breath-holding spells are episodes of brief, involuntary cessations of breathing that occur in children in response to stimuli such as fear or injury. They are usually benign, and although very rarely, breath-holding spells accompany deteriorative neurological diseases. Here, we present two patients having infantile neuroaxonal dystrophy and breath-holding spells. Presence of the common respira...

Recently a novel case of angiokeratoma corporis diffusum with glycoaminoaciduria was described in a 46-yr-old Japanese woman. Known causes of the cutaneous manifestation were eliminated by enzyme analyses, and further characterization of the accumulated urinary O-linked sialopeptides revealed identity to those excreted by patients with an infantile neuroaxonal dystrophy due to lysosomal alpha-N...

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities these disorders. We report neuropathological data a form NAD, precocious prenatal onset, from classical and conatal Infantile Dystrophy (INAD). studied 5 fetuses examined after pregnancy termination ...