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Pantothenate Kinase-Associated Neurodegeneration
Monday, 24 May 2004
Monday, 24 May 2004
Neuroaxonal Dystrophy, Late Infantile; Neurodeneration with Brain Iron Accumulation; Hallervorden-Sp

What

Pantothenate kinase-associated neurodegeneration (PANK) is a rare, occasionally inherited, genetic disorder that is characterized by progressive brain degeneration and neurological deficits that begin in late childhood. Iron deposits in the brain are a unique feature of this disease.

Who

The frequency of PANK is not known however there is a tendency for PANK to run in families. There is no racial predilection and occurs equally in males and females. The age of onset is usually in late childhood and early adolescence.

Signs and Symptoms

Children with PANK may exhibit all of the following: • Problems with movement in the first decade of life with stiffness in the extremities, slow movements, jerking or writhing movements, and tremors. • Abnormal speech with problems articulating sounds. • Difficulty swallowing from stiffness. • Memory loss and dementia usually develops over time. • Abnormal vision from involvement of the optic nerve. • Seizures. These problems get steadily worse with time.

Possible Causes

In about 50% of cases a gene called PANK2 has been found to be abnormal. Defects in PANK2 lead to a deficiency of a protein called pantothenate kinase that leads to iron deposits in the brain. Iron accumulation is thought to contribute heavily to the neurological deficits that develop.

Diagnosis

Making the diagnosis of PANK relies upon recognition of certain clinical features. The criteria that must be met include: onset in the first 20 yrs of life, steadily worsening symptoms, and muscle rigidity. Additional findings that support the diagnosis include: vision problems, seizures, family history, and abnormalities on brain imaging studies such as MRI (magnetic resonance imaging). Your doctor may perform blood tests to measure electrolyte levels and other markers (copper, cerruloplasmin, fat levels) for other similar conditions that need to be excluded. An electroencephalogram (EEG) may be needed if there is seizure activity. Genetic tests for the disorder may become available now that the gene has been determined.

Treatment

There is no cure for PANK. Medical therapy is centered on relieving the rigidity and seizure activity associated with the condition. Medications such as bromocriptine and levodopa increase dopamine levels in the brain alleviating abnormal muscle movements. Botox injections and other muscle relaxants can be used to relieve rigidity. Iron binding agents remain controversial in terms of beneficial effects. Intensive speech therapy is imperative while a gastrostomy tube (G-tube) may be placed if malnutrition develops. A multidisciplinary approach including occupation, speech, and physical therapists is critical.

Prognosis

Because of the worsening muscle rigidity, seizures and risk for infections, as a result, few children survive into the third decade of life.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Institute of Neurological Diseases and Stroke http://www.ninds.nih.gov/health_and_medical/disorders/hallervorden.htm National organization that provides detailed information on this condition. GeneReviews http://www.geneclinics.org/query?dz=pkan Technical information about the disorder and testing for the disorder. NBIA Disorders Association http://www.NBIAdisorders.org Support group for families of children with neurodegeneration with brain iron accumulation. Diseases Database.com http://www.diseasesdatabase.com/ddb29462.htm Compilation of internet hits for information on this condition. Orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=385 International website documenting latest in treatment and clinical trials. Whonamedit.com http://www.whonamedit.com/synd.cfm/1082.html Informative website providing general information about the condition.

Google Search for Pantothenate Kinase-Associated Neurodegeneration

References and Sources

Emedicine.com article: http://www.emedicine.com/neuro/topic151.htm By Neeta Garg, M.D. Hayflick, S.J. (2003) Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 15(6): 572-7. Rao, C. et al. (2003) Hallervorden Spatz disease. Indian J Pediatr.70(6): 513-4.