Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the. Hallervorden-Spatz syndrome was first described in by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters.

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Associated symptoms include progressive deterioration of cognitive abilities dementialoss of contact with reality psychosismood swings and loss of acquired motor skills. Nausea and Birth Control Pills: Gradually, the symptom worsened and it propagated to left foot and then left hand and right foot involved too [ Video 3 ].

Neurodegeneration with brain iron accumulation 8.

Pallidotomy and thalamotomy have been investigational attempts at controlling dystonia. All studies receiving U. Complications of Hallervorden-Spatz Disease. The symptoms and physical findings associated with PKAN gene mutations can be distinguished between classical and atypical disease.

PKAN is the most common type of neurodegeneration with brain iron accumulation NBIAa group of clinical disorders marked by progressive abnormal involuntary movements, halleervorden in muscle tone, and postural disturbances extrapyramidal.

Journal List Adv Biomed Res v. Instead, your doctor will treat your symptoms.


Another common feature is degeneration of the retina, resulting in progressive night blindness and loss of peripheral side vision. The authors suggested that a larger series of patients with Hallervorden-Spatz disease should be studied ophthalmologically to exclude the coincidental occurrence of optic atrophy in a patient with otherwise typical Hallervorden-Spatz disease.

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Hallervorden-Spatz Disease

Author information Article notes Copyright and License information Disclaimer. Analysis of 9 other families from New Zealand, Australia, Spain, and Italy supported linkage to this region with a total maximum 2-point lod score of The treatment of patients with HSD remains directed toward symptomatic findings.

Both Hugo Spatz and Julius Hallervorden were involved in the Nazi euthanasia program and, as such, the alternative name is preferred by some authors. Theoretically, this is most likely to assist individuals with very low levels of pantothenatee kinase activity atypical PKAN.

Based on the common clinical features, the following diagnostic criteria for HSD have been proposed. This is a progressive degeneration of the nerve-rich membrane lining the eyes retinaresulting in tunnel vision, night halleervorden, and loss of peripheral vision. In addition, some patients with Kufor-Rakeb syndromealso known as Parkinson disease-9 PARK9have iron deposition in the basal ganglia. Neurodegeneration with brain iron accumulation 3. The preferential involvement of basal ganglia is attributed to the excess of pantothenate kinase receptors.


She exhibited dystonic posturing of extremities, trunk, head and neck as well as oromandibular dystonia. Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements chorea and athetosis, a condition symdrome by relatively slow, writhing involuntary movements.

Pantothenate kinase-associated neurodegeneration – Wikipedia

This is a season that comes with a lot of demands on our time and energy. Lyon G, et al. Many of the delays in development pertain to motor skills movementalthough a small subgroup may have intellectual delays. We are determined to keep this website freely accessible. Deep brain stimulation DBS hallervordem relieve some symptoms. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear.


Individuals with classical PKAN are more likely to have specific eye problems. Generalized dystonia with predominance of oromandibular involvement, behavioral changes followed by dementia, and retinal degeneration were present in all the patients.

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The risk is the same for males and females.