Adult amaurotic family idiocy

The adult amaurotic idiocy (type Kufs-Hallervorden) is considered with the amaurotic idiocies on the basis of typical pathologic findings in the central nervous system. Biochemical studies in this type are very scarce. 

This late form of the amaurotic idiocies has been described for the first time b Kufs (1925, 1929, 1930), and its clinical features were defined in detail by HallerVORDEN (1938, 1939). Subsequently, various other authors have contributed to the knowledge about the disorder (van Bogaert and Borremanns 1937, Bird 1948, van Bogaert 1952, Diezel 1954a, 1957, 1962, Moschel 1954, Allegranza 1956, Jatzkewitz et al. 1965). 

First clinical manifestations appear after puberty, between the 15th and 25th years of life. They consist mainly of symptoms of mental involution. Neurologic signs result from involvement of the extrapyramidal system, in addition, cerebral seizures are observed. Visual disturbances, pigmentary retinitis and optic atrophy occur rarely, and blindness does not develop. The disease runs a chronic course, which may last for decades and end up with the picture of pseudobulbar palsy or marasm. 

Difficulties in differential diagnosis result from the chronic course. According to Hallervorden (1938), distinction from late infantile and juvenile cases is not always possible if these progress slowly. A relationship of these three types of amaurotic idiocy is also suggested by the observation of Zeman and Hoffmann (1962) who saw cases of juvenile and adult amaurotic idiocy in one family. Morphologically, differentiation from Alzheimer s disease may be difficult (Diezel 1962). 

---

There is no question that there is ganglioside storage in TSD. In addition, recent analyses have shown that gangliosides are also increased in the late-infantile amaurotic family idiocy. Variable findings have been reported for the juvenile form, and increased gangliosides have not yet been found in the adult variety. 

Neuronal ceroid lipofuscinosis, or Familial amaurotic idiocy (a sphingolipidosis). Types Santa-vuoii (infantiie), Jansky-Blelschowsky (late infantile), Batten-Splelmeyer-Vogt (juvenile), Kttfs (adult). 

---